nsv4370379
- 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:25,110
- 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: 472 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370379 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 1,711,026 | 1,736,132 |
| nsv4370379 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 123,686 | 148,795 |
| nsv4370379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 1,659,192 | 1,684,298 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15651342 | copy number loss | 2-1371-002 | SNP array | Genotyping | 18 |
| nssv15661236 | copy number loss | 5-0061-001 | SNP array | Genotyping | 21 |
| nssv15685659 | copy number loss | OCD169-8961251 | SNP array | Genotyping | 22 |
| nssv15697920 | copy number loss | 215410 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15651342 | Remapped | Good | NT_187680.1:g.(?_1 23686)_(148795_?)d el | GRCh38.p12 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 123,686 | 148,795 |
| nssv15661236 | Remapped | Good | NT_187680.1:g.(?_1 23686)_(148795_?)d el | GRCh38.p12 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 123,686 | 148,795 |
| nssv15685659 | Remapped | Good | NT_187680.1:g.(?_1 23686)_(148795_?)d el | GRCh38.p12 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 123,686 | 148,795 |
| nssv15697920 | Remapped | Good | NT_187680.1:g.(?_1 23686)_(148795_?)d el | GRCh38.p12 | Second Pass | NT_187680.1 | Chr8|NT_18 7680.1 | 123,686 | 148,795 |
| nssv15651342 | Remapped | Perfect | NC_000008.11:g.(?_ 1711026)_(1736132_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,711,026 | 1,736,132 |
| nssv15661236 | Remapped | Perfect | NC_000008.11:g.(?_ 1711026)_(1736132_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,711,026 | 1,736,132 |
| nssv15685659 | Remapped | Perfect | NC_000008.11:g.(?_ 1711026)_(1736132_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,711,026 | 1,736,132 |
| nssv15697920 | Remapped | Perfect | NC_000008.11:g.(?_ 1711026)_(1736132_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 1,711,026 | 1,736,132 |
| nssv15651342 | Submitted genomic | NC_000008.10:g.(?_ 1659192)_(1684298_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,659,192 | 1,684,298 | ||
| nssv15661236 | Submitted genomic | NC_000008.10:g.(?_ 1659192)_(1684298_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,659,192 | 1,684,298 | ||
| nssv15685659 | Submitted genomic | NC_000008.10:g.(?_ 1659192)_(1684298_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,659,192 | 1,684,298 | ||
| nssv15697920 | Submitted genomic | NC_000008.10:g.(?_ 1659192)_(1684298_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 1,659,192 | 1,684,298 |