nsv5344513
- 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: 206 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5344513 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,732,424 | 39,732,424 | + |
| nsv5344513 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,732,501 | 39,732,501 | + |
| nsv5344513 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 483,042 | 483,042 | + |
| nsv5344513 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 483,119 | 483,119 | + |
| nsv5344513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,589,943 | 39,589,943 | + | ||
| nsv5344513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,590,020 | 39,590,020 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16405988 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16405988 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 483,042 | 483,042 | + |
| nssv16405988 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 483,119 | 483,119 | + |
| nssv16405988 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,732,424 | 39,732,424 | + |
| nssv16405988 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,732,501 | 39,732,501 | + |
| nssv16405988 | Submitted genomic | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,589,943 | 39,589,943 | + | ||
| nssv16405988 | Submitted genomic | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,590,020 | 39,590,020 | + |
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) |
|---|---|---|---|
| nssv16405988 | <0.001 | 1 | 16834 |