nsv4368869
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,249
- 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: 1292 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1309 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368869 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nsv4368869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15629198 | copy number loss | 1-0566-002 | SNP array | Genotyping | 24 |
| nssv15643239 | copy number loss | 14-0362-002 | SNP array | Genotyping | 21 |
| nssv15673213 | copy number loss | 9-0036-002 | SNP array | Genotyping | 24 |
| nssv15673299 | copy number loss | 9-0038-001 | SNP array | Genotyping | 26 |
| nssv15684954 | copy number loss | OCD156-ba-1278(190003) | SNP array | Genotyping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15629198 | Remapped | Perfect | NC_000001.11:g.(?_ 1697374)_(1743622_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nssv15643239 | Remapped | Perfect | NC_000001.11:g.(?_ 1697374)_(1743622_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nssv15673213 | Remapped | Perfect | NC_000001.11:g.(?_ 1697374)_(1743622_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nssv15673299 | Remapped | Perfect | NC_000001.11:g.(?_ 1697374)_(1743622_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nssv15684954 | Remapped | Perfect | NC_000001.11:g.(?_ 1697374)_(1743622_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 1,697,374 | 1,743,622 |
| nssv15629198 | Submitted genomic | NC_000001.10:g.(?_ 1628813)_(1675061_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 | ||
| nssv15643239 | Submitted genomic | NC_000001.10:g.(?_ 1628813)_(1675061_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 | ||
| nssv15673213 | Submitted genomic | NC_000001.10:g.(?_ 1628813)_(1675061_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 | ||
| nssv15673299 | Submitted genomic | NC_000001.10:g.(?_ 1628813)_(1675061_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 | ||
| nssv15684954 | Submitted genomic | NC_000001.10:g.(?_ 1628813)_(1675061_ ?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 1,628,813 | 1,675,061 |