nsv6632960
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,531
- Publication(s):Zarrei et al. 2023
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: 1067 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 859 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632960 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nsv6632960 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nsv6632960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302140 | deletion | OSC5734 | SNP array | Probe signal intensity | 10 |
| nssv18303380 | deletion | OSC5988 | SNP array | Probe signal intensity | 7 |
| nssv18304015 | deletion | OSC6203 | SNP array | Probe signal intensity | 10 |
| nssv18304767 | deletion | OSC6114 | SNP array | Probe signal intensity | 10 |
| nssv18305119 | deletion | OSC6337 | SNP array | Probe signal intensity | 9 |
| nssv18305728 | deletion | OSC6349 | SNP array | Probe signal intensity | 10 |
| nssv18311380 | deletion | OSC7501 | SNP array | Probe signal intensity | 11 |
| nssv18311797 | deletion | OSC7505 | SNP array | Probe signal intensity | 14 |
| nssv18312258 | deletion | OSC7482 | SNP array | Probe signal intensity | 12 |
| nssv18315880 | deletion | OSC8094 | SNP array | Probe signal intensity | 12 |
| nssv18316587 | deletion | OSC8282 | SNP array | Probe signal intensity | 11 |
| nssv18316884 | deletion | OSC8304 | SNP array | Probe signal intensity | 5 |
| nssv18317247 | deletion | OSC8372 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302140 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18303380 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18304015 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18304767 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18305119 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18305728 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18311380 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18311797 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18312258 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18315880 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18316587 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18316884 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18317247 | Remapped | Perfect | NT_187576.1:g.(?_3 67759)_(413760_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 367,759 | 413,760 |
| nssv18302140 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18303380 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18304015 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18304767 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18305119 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18305728 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18311380 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18311797 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18312258 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18315880 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18316587 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18316884 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18317247 | Remapped | Good | NC_000008.11:g.(?_ 2184352)_(2230882_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,184,352 | 2,230,882 |
| nssv18302140 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18303380 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18304015 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18304767 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18305119 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18305728 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18311380 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18311797 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18312258 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18315880 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18316587 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18316884 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 | ||
| nssv18317247 | Submitted genomic | NC_000008.10:g.(?_ 2132549)_(2178550_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,132,549 | 2,178,550 |