nsv5343970
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Abel et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1125 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1064 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 641 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 641 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 635 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1125 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1064 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,003,944 | 242,003,944 | + |
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,016,314 | 242,016,314 | + |
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,639 | 42,639 | + |
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,639 | 42,639 | + |
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 59,424 | 59,424 | + |
| nsv5343970 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 60,427 | 60,427 | + |
| nsv5343970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,946,095 | 242,946,095 | + | ||
| nsv5343970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,958,465 | 242,958,465 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16401012 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,639 | 42,639 | + |
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,639 | 42,639 | + |
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 59,424 | 59,424 | + |
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 60,427 | 60,427 | + |
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,003,944 | 242,003,944 | + |
| nssv16401012 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,016,314 | 242,016,314 | + |
| nssv16401012 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,946,095 | 242,946,095 | + | ||
| nssv16401012 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,958,465 | 242,958,465 | + |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16401012 | <0.001 | 5 | 16824 |