nsv6625871
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,389
- 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: 855 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 855 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625871 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nsv6625871 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282248 | duplication | OSC2033 | SNP array | Probe signal intensity | 6 |
| nssv18283631 | deletion | OSC2361 | SNP array | Probe signal intensity | 7 |
| nssv18286070 | duplication | OSC2791 | SNP array | Probe signal intensity | 7 |
| nssv18286614 | duplication | OSC2945 | SNP array | Probe signal intensity | 6 |
| nssv18290835 | duplication | OSC3808 | SNP array | Probe signal intensity | 5 |
| nssv18290851 | duplication | OSC3819 | SNP array | Probe signal intensity | 6 |
| nssv18290938 | duplication | OSC3627 | SNP array | Probe signal intensity | 6 |
| nssv18291238 | duplication | OSC3624 | SNP array | Probe signal intensity | nssv18290356, nssv18291237 |
| nssv18291758 | duplication | OSC3963 | SNP array | Probe signal intensity | 7 |
| nssv18291888 | duplication | OSC3902 | SNP array | Probe signal intensity | 7 |
| nssv18294845 | duplication | OSC4459 | SNP array | Probe signal intensity | 5 |
| nssv18295225 | duplication | OSC4465 | SNP array | Probe signal intensity | 15 |
| nssv18295520 | duplication | OSC4497 | SNP array | Probe signal intensity | 8 |
| nssv18296296 | duplication | OSC4589 | SNP array | Probe signal intensity | 7 |
| nssv18322482 | duplication | OSC1481 | SNP array | Probe signal intensity | 11 |
| nssv18322972 | duplication | OSC0137 | SNP array | Probe signal intensity | nssv18323255, nssv18322708 |
| nssv18324860 | duplication | OSC1851 | SNP array | Probe signal intensity | nssv18324858, nssv18324859, nssv18325513 |
| nssv18324878 | duplication | OSC1862 | SNP array | Probe signal intensity | nssv18325532 |
| nssv18325668 | duplication | OSC1776 | SNP array | Probe signal intensity | nssv18325112, nssv18325113, nssv18325399 |
| nssv18326209 | duplication | OSC1995 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282248 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18283631 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18286070 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18286614 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18290835 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18290851 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18290938 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18291238 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18291758 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18291888 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18294845 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18295225 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18295520 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18296296 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18322482 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18322972 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18324860 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18324878 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18325668 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18326209 | Remapped | Perfect | NC_000001.11:g.(?_ 1732392)_(1748780_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,732,392 | 1,748,780 |
| nssv18282248 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18283631 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18286070 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18286614 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18290835 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18290851 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18290938 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18291238 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18291758 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18291888 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18294845 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18295225 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18295520 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18296296 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18322482 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18322972 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18324860 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18324878 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18325668 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 | ||
| nssv18326209 | Submitted genomic | NC_000001.10:g.(?_ 1663831)_(1680219_ ?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,663,831 | 1,680,219 |