nsv4385679
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:482,166
- Publication(s):Zarrei et al. 2019
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: 2282 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2457 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385679 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 65,147,891 | 65,630,056 |
| nsv4385679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 64,608,269 | 65,094,968 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15634988 | copy number loss | 12-4425-005 | SNP array | Genotyping | 24 |
| nssv15642073 | copy number loss | 15-1128-002 | SNP array | Genotyping | 17 |
| nssv15644643 | copy number loss | 16-1000-001 | SNP array | Genotyping | 21 |
| nssv15665605 | copy number loss | 7-0080-003 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15634988 | Remapped | Good | NC_000007.14:g.(?_ 65147891)_(6563005 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,147,891 | 65,630,056 |
| nssv15642073 | Remapped | Good | NC_000007.14:g.(?_ 65147891)_(6563005 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,147,891 | 65,630,056 |
| nssv15644643 | Remapped | Good | NC_000007.14:g.(?_ 65147891)_(6563005 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,147,891 | 65,630,056 |
| nssv15665605 | Remapped | Good | NC_000007.14:g.(?_ 65147891)_(6563005 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,147,891 | 65,630,056 |
| nssv15634988 | Submitted genomic | NC_000007.13:g.(?_ 64608269)_(6509496 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,608,269 | 65,094,968 | ||
| nssv15642073 | Submitted genomic | NC_000007.13:g.(?_ 64608269)_(6509496 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,608,269 | 65,094,968 | ||
| nssv15644643 | Submitted genomic | NC_000007.13:g.(?_ 64608269)_(6509496 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,608,269 | 65,094,968 | ||
| nssv15665605 | Submitted genomic | NC_000007.13:g.(?_ 64608269)_(6509496 8_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,608,269 | 65,094,968 |