nsv6625607
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82,973
- 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: 1674 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1719 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625607 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nsv6625607 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18302568 | duplication | OSC5828 | SNP array | Probe signal intensity | 8 |
| nssv18302634 | deletion | OSC5872 | SNP array | Probe signal intensity | 7 |
| nssv18302914 | deletion | OSC5901 | SNP array | Probe signal intensity | 7 |
| nssv18303275 | duplication | OSC5906 | SNP array | Probe signal intensity | nssv18302689, nssv18302917, nssv18303274 |
| nssv18304008 | deletion | OSC6196 | SNP array | Probe signal intensity | 11 |
| nssv18304072 | deletion | OSC6236 | SNP array | Probe signal intensity | 12 |
| nssv18304162 | duplication | OSC6146 | SNP array | Probe signal intensity | 15 |
| nssv18304427 | deletion | OSC6068 | SNP array | Probe signal intensity | 10 |
| nssv18304483 | deletion | OSC6119 | SNP array | Probe signal intensity | 8 |
| nssv18304720 | deletion | OSC6075 | SNP array | Probe signal intensity | 10 |
| nssv18304769 | deletion | OSC6114 | SNP array | Probe signal intensity | 10 |
| nssv18314649 | deletion | OSC7874 | SNP array | Probe signal intensity | 12 |
| nssv18316317 | deletion | OSC8339 | SNP array | Probe signal intensity | 10 |
| nssv18317730 | deletion | OSC8410 | SNP array | Probe signal intensity | 10 |
| nssv18318002 | duplication | OSC8413 | SNP array | Probe signal intensity | 13 |
| nssv18319174 | duplication | OSC8767 | SNP array | Probe signal intensity | 11 |
| nssv18319712 | deletion | OSC8769 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18302568 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18302634 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18302914 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18303275 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304008 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304072 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304162 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304427 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304483 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304720 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18304769 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18314649 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18316317 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18317730 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18318002 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18319174 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18319712 | Remapped | Good | NC_000001.11:g.(?_ 12805521)_(1288849 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,805,521 | 12,888,493 |
| nssv18302568 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18302634 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18302914 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18303275 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304008 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304072 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304162 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304427 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304483 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304720 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18304769 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18314649 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18316317 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18317730 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18318002 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18319174 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 | ||
| nssv18319712 | Submitted genomic | NC_000001.10:g.(?_ 12865657)_(1294831 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,865,657 | 12,948,317 |