nsv5345390
- 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: 796 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 796 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 984 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,968,070 | 241,968,070 | - |
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,976,938 | 241,976,938 | - |
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 15,633 | 15,633 | - |
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 15,633 | 15,633 | - |
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 6,765 | 6,765 | - |
| nsv5345390 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 6,765 | 6,765 | - |
| nsv5345390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,910,221 | 242,910,221 | - | ||
| nsv5345390 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,919,089 | 242,919,089 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16411642 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 6,765 | 6,765 | - |
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 6,765 | 6,765 | - |
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 15,633 | 15,633 | - |
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 15,633 | 15,633 | - |
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,968,070 | 241,968,070 | - |
| nssv16411642 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,976,938 | 241,976,938 | - |
| nssv16411642 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,910,221 | 242,910,221 | - | ||
| nssv16411642 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,919,089 | 242,919,089 | - |
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) |
|---|---|---|---|
| nssv16411642 | <0.001 | 1 | 16824 |