nsv6625604
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:27,569
- 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: 1110 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1100 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625604 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nsv6625604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284186 | duplication | OSC2540 | SNP array | Probe signal intensity | 6 |
| nssv18285022 | duplication | OSC2474 | SNP array | Probe signal intensity | nssv18284090, nssv18285021, nssv18283419 |
| nssv18285894 | duplication | OSC0304 | SNP array | Probe signal intensity | 11 |
| nssv18286674 | duplication | OSC2987 | SNP array | Probe signal intensity | 8 |
| nssv18287255 | duplication | OSC3000 | SNP array | Probe signal intensity | 8 |
| nssv18287955 | duplication | OSC3225 | SNP array | Probe signal intensity | 6 |
| nssv18294027 | deletion | OSC4261 | SNP array | Probe signal intensity | 6 |
| nssv18294663 | duplication | OSC4304 | SNP array | Probe signal intensity | 10 |
| nssv18295885 | duplication | OSC4540 | SNP array | Probe signal intensity | 7 |
| nssv18296694 | deletion | OSC4862 | SNP array | Probe signal intensity | nssv18296931, nssv18296932, nssv18297260 |
| nssv18298026 | duplication | OSC5000 | SNP array | Probe signal intensity | nssv18297790, nssv18298361, nssv18298362 |
| nssv18298488 | duplication | OSC5085 | SNP array | Probe signal intensity | nssv18298489 |
| nssv18298747 | duplication | OSC5037 | SNP array | Probe signal intensity | 9 |
| nssv18298780 | deletion | OSC5053 | SNP array | Probe signal intensity | 6 |
| nssv18299096 | duplication | OSC5284 | SNP array | Probe signal intensity | nssv18299346, nssv18299691 |
| nssv18299277 | duplication | OSC5232 | SNP array | Probe signal intensity | 6 |
| nssv18299717 | duplication | OSC5302 | SNP array | Probe signal intensity | 7 |
| nssv18300657 | deletion | OSC5591 | SNP array | Probe signal intensity | 6 |
| nssv18302361 | deletion | OSC5699 | SNP array | Probe signal intensity | 7 |
| nssv18311289 | duplication | OSC0781 | SNP array | Probe signal intensity | nssv18311693 |
| nssv18317350 | duplication | OSC0879 | SNP array | Probe signal intensity | 5 |
| nssv18318021 | duplication | OSC0881 | SNP array | Probe signal intensity | nssv18318027, nssv18317763, nssv18317757 |
| nssv18319922 | duplication | OSC0949 | SNP array | Probe signal intensity | 5 |
| nssv18320335 | duplication | OSC0097 | SNP array | Probe signal intensity | 5 |
| nssv18321103 | deletion | OSC1155 | SNP array | Probe signal intensity | 5 |
| nssv18321423 | duplication | OSC1127 | SNP array | Probe signal intensity | 8 |
| nssv18322326 | duplication | OSC1370 | SNP array | Probe signal intensity | 6 |
| nssv18325178 | deletion | OSC1823 | SNP array | Probe signal intensity | 5 |
| nssv18325600 | duplication | OSC1909 | SNP array | Probe signal intensity | nssv18325304, nssv18325305, nssv18325601 |
| nssv18326031 | duplication | OSC2025 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284186 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18285022 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18285894 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18286674 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18287255 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18287955 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18294027 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18294663 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18295885 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18296694 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18298026 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18298488 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18298747 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18298780 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18299096 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18299277 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18299717 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18300657 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18302361 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18311289 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18317350 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18318021 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18319922 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18320335 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18321103 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18321423 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18322326 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18325178 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18325600 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18326031 | Remapped | Good | NC_000001.11:g.(?_ 12792723)_(1282029 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,792,723 | 12,820,291 |
| nssv18284186 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18285022 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18285894 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18286674 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18287255 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18287955 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18294027 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18294663 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18295885 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18296694 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18298026 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18298488 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18298747 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18298780 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18299096 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18299277 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18299717 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18300657 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18302361 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18311289 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18317350 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18318021 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18319922 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18320335 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18321103 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18321423 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18322326 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18325178 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18325600 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 | ||
| nssv18326031 | Submitted genomic | NC_000001.10:g.(?_ 12852872)_(1288015 3_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,852,872 | 12,880,153 |