nsv6628176
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:242,233
- 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: 1809 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1828 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628176 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nsv6628176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282600 | duplication | OSC2063 | SNP array | Probe signal intensity | 9 |
| nssv18288538 | deletion | OSC3233 | SNP array | Probe signal intensity | 5 |
| nssv18296032 | deletion | OSC4653 | SNP array | Probe signal intensity | 5 |
| nssv18296374 | deletion | OSC4651 | SNP array | Probe signal intensity | nssv18295714 |
| nssv18296613 | deletion | OSC4803 | SNP array | Probe signal intensity | 8 |
| nssv18296668 | deletion | OSC4843 | SNP array | Probe signal intensity | nssv18297234 |
| nssv18296949 | deletion | OSC4876 | SNP array | Probe signal intensity | nssv18296708, nssv18297279, nssv18297280 |
| nssv18297160 | deletion | OSC4790 | SNP array | Probe signal intensity | nssv18296595 |
| nssv18297570 | deletion | OSC4857 | SNP array | Probe signal intensity | 5 |
| nssv18297577 | deletion | OSC4859 | SNP array | Probe signal intensity | nssv18296690, nssv18297575, nssv18297576 |
| nssv18325977 | deletion | OSC1981 | SNP array | Probe signal intensity | nssv18325978 |
| nssv18326117 | deletion | OSC2000 | SNP array | Probe signal intensity | nssv18325995, nssv18325996, nssv18326256 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282600 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18288538 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18296032 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18296374 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18296613 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18296668 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18296949 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18297160 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18297570 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18297577 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18325977 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18326117 | Remapped | Good | NC_000002.12:g.(?_ 89948234)_(9019046 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 89,948,234 | 90,190,466 |
| nssv18282600 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18288538 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18296032 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18296374 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18296613 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18296668 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18296949 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18297160 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18297570 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18297577 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18325977 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 | ||
| nssv18326117 | Submitted genomic | NC_000002.11:g.(?_ 89987044)_(9022931 8_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 89,987,044 | 90,229,318 |