nsv6621388
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:97,569
- 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: 1653 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1653 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6621388 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nsv6621388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283111 | duplication | OSC0022 | SNP array | Probe signal intensity | nssv18283302, nssv18283344, nssv18283676 |
| nssv18283125 | duplication | OSC2449 | SNP array | Probe signal intensity | 11 |
| nssv18283347 | deletion | OSC2419 | SNP array | Probe signal intensity | 5 |
| nssv18283559 | duplication | OSC2309 | SNP array | Probe signal intensity | 10 |
| nssv18283762 | duplication | OSC0256 | SNP array | Probe signal intensity | nssv18283151, nssv18283397, nssv18283403 |
| nssv18284170 | duplication | OSC2528 | SNP array | Probe signal intensity | 7 |
| nssv18284512 | deletion | OSC2599 | SNP array | Probe signal intensity | 8 |
| nssv18285461 | duplication | OSC0288 | SNP array | Probe signal intensity | 10 |
| nssv18286168 | duplication | OSC2868 | SNP array | Probe signal intensity | 7 |
| nssv18289835 | duplication | OSC3507 | SNP array | Probe signal intensity | 9 |
| nssv18291386 | duplication | OSC3734 | SNP array | Probe signal intensity | 10 |
| nssv18291573 | duplication | OSC3832 | SNP array | Probe signal intensity | 9 |
| nssv18292047 | duplication | OSC4005 | SNP array | Probe signal intensity | 7 |
| nssv18292399 | duplication | OSC4003 | SNP array | Probe signal intensity | 9 |
| nssv18295010 | duplication | OSC4319 | SNP array | Probe signal intensity | nssv18295011 |
| nssv18295463 | duplication | OSC4636 | SNP array | Probe signal intensity | 7 |
| nssv18295774 | duplication | OSC4700 | SNP array | Probe signal intensity | nssv18295773, nssv18295775, nssv18295776 |
| nssv18296788 | duplication | OSC4770 | SNP array | Probe signal intensity | 7 |
| nssv18299464 | duplication | OSC5390 | SNP array | Probe signal intensity | nssv18299462, nssv18299463 |
| nssv18299558 | duplication | OSC5190 | SNP array | Probe signal intensity | 7 |
| nssv18300989 | duplication | OSC5572 | SNP array | Probe signal intensity | 5 |
| nssv18304541 | duplication | OSC0641 | SNP array | Probe signal intensity | 6 |
| nssv18308952 | duplication | OSC0742 | SNP array | Probe signal intensity | 7 |
| nssv18309459 | duplication | OSC0739 | SNP array | Probe signal intensity | nssv18309144, nssv18309466, nssv18309469 |
| nssv18319967 | duplication | OSC0988 | SNP array | Probe signal intensity | 12 |
| nssv18319992 | deletion | OSC1006 | SNP array | Probe signal intensity | nssv18320616, nssv18320366, nssv18320365 |
| nssv18322655 | duplication | OSC1338 | SNP array | Probe signal intensity | 7 |
| nssv18322980 | duplication | OSC1375 | SNP array | Probe signal intensity | nssv18322710, nssv18322711, nssv18323256 |
| nssv18323050 | duplication | OSC1424 | SNP array | Probe signal intensity | 7 |
| nssv18323238 | duplication | OSC1362 | SNP array | Probe signal intensity | nssv18322318, nssv18322319 |
| nssv18323263 | duplication | OSC1378 | SNP array | Probe signal intensity | 8 |
| nssv18323368 | duplication | OSC0146 | SNP array | Probe signal intensity | nssv18323371, nssv18323364 |
| nssv18323860 | duplication | OSC1541 | SNP array | Probe signal intensity | 7 |
| nssv18326098 | duplication | OSC1985 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283111 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18283125 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18283347 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18283559 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18283762 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18284170 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18284512 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18285461 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18286168 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18289835 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18291386 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18291573 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18292047 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18292399 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18295010 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18295463 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18295774 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18296788 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18299464 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18299558 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18300989 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18304541 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18308952 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18309459 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18319967 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18319992 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18322655 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18322980 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18323050 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18323238 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18323263 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18323368 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18323860 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18326098 | Remapped | Perfect | NC_000012.12:g.(?_ 7851162)_(7948730_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,851,162 | 7,948,730 |
| nssv18283111 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18283125 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18283347 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18283559 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18283762 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18284170 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18284512 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18285461 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18286168 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18289835 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18291386 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18291573 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18292047 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18292399 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18295010 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18295463 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18295774 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18296788 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18299464 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18299558 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18300989 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18304541 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18308952 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18309459 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18319967 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18319992 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18322655 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18322980 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18323050 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18323238 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18323263 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18323368 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18323860 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 | ||
| nssv18326098 | Submitted genomic | NC_000012.11:g.(?_ 8003758)_(8101326_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 8,003,758 | 8,101,326 |