nsv6628602
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71,151
- 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: 1273 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1279 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628602 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nsv6628602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283450 | deletion | OSC2504 | SNP array | Probe signal intensity | 6 |
| nssv18284130 | duplication | OSC2500 | SNP array | Probe signal intensity | 7 |
| nssv18284475 | duplication | OSC2576 | SNP array | Probe signal intensity | nssv18284474, nssv18284838, nssv18285180 |
| nssv18290010 | deletion | OSC3420 | SNP array | Probe signal intensity | 7 |
| nssv18290184 | deletion | OSC3535 | SNP array | Probe signal intensity | 13 |
| nssv18290659 | deletion | OSC3661 | SNP array | Probe signal intensity | 10 |
| nssv18290807 | duplication | OSC3789 | SNP array | Probe signal intensity | nssv18290806 |
| nssv18290812 | deletion | OSC3792 | SNP array | Probe signal intensity | 8 |
| nssv18291819 | deletion | OSC3853 | SNP array | Probe signal intensity | 5 |
| nssv18292507 | duplication | OSC3865 | SNP array | Probe signal intensity | nssv18291607, nssv18291831, nssv18292508 |
| nssv18293502 | deletion | OSC4123 | SNP array | Probe signal intensity | 11 |
| nssv18294003 | duplication | OSC4244 | SNP array | Probe signal intensity | 5 |
| nssv18296562 | deletion | OSC4768 | SNP array | Probe signal intensity | 5 |
| nssv18297108 | deletion | OSC4757 | SNP array | Probe signal intensity | nssv18296550, nssv18296770, nssv18297107 |
| nssv18297369 | deletion | OSC4707 | SNP array | Probe signal intensity | 9 |
| nssv18298067 | deletion | OSC5035 | SNP array | Probe signal intensity | nssv18297836 |
| nssv18299026 | deletion | OSC5222 | SNP array | Probe signal intensity | 7 |
| nssv18299136 | deletion | OSC5312 | SNP array | Probe signal intensity | 7 |
| nssv18299380 | deletion | OSC5314 | SNP array | Probe signal intensity | nssv18300018 |
| nssv18299759 | deletion | OSC5346 | SNP array | Probe signal intensity | 5 |
| nssv18299931 | deletion | OSC5244 | SNP array | Probe signal intensity | 6 |
| nssv18300529 | deletion | OSC5495 | SNP array | Probe signal intensity | 6 |
| nssv18300638 | deletion | OSC5577 | SNP array | Probe signal intensity | 8 |
| nssv18301234 | deletion | OSC5538 | SNP array | Probe signal intensity | 5 |
| nssv18301250 | deletion | OSC5552 | SNP array | Probe signal intensity | 8 |
| nssv18302261 | deletion | OSC5616 | SNP array | Probe signal intensity | 13 |
| nssv18321392 | deletion | OSC1097 | SNP array | Probe signal intensity | 9 |
| nssv18322755 | deletion | OSC1406 | SNP array | Probe signal intensity | 6 |
| nssv18324729 | deletion | OSC1763 | SNP array | Probe signal intensity | 8 |
| nssv18324856 | deletion | OSC1850 | SNP array | Probe signal intensity | 6 |
| nssv18325277 | deletion | OSC1887 | SNP array | Probe signal intensity | 6 |
| nssv18325567 | duplication | OSC1888 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283450 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18284130 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18284475 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18290010 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18290184 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18290659 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18290807 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18290812 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18291819 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18292507 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18293502 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18294003 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18296562 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18297108 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18297369 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18298067 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18299026 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18299136 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18299380 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18299759 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18299931 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18300529 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18300638 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18301234 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18301250 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18302261 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18321392 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18322755 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18324729 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18324856 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18325277 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18325567 | Remapped | Good | NC_000002.12:g.(?_ 89999269)_(9007041 9_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,999,269 | 90,070,419 |
| nssv18283450 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18284130 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18284475 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18290010 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18290184 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18290659 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18290807 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18290812 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18291819 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18292507 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18293502 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18294003 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18296562 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18297108 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18297369 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18298067 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18299026 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18299136 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18299380 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18299759 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18299931 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18300529 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18300638 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18301234 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18301250 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18302261 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18321392 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18322755 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18324729 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18324856 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18325277 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 | ||
| nssv18325567 | Submitted genomic | NC_000002.11:g.(?_ 90038079)_(9010926 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,038,079 | 90,109,261 |