nsv6620176
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:161,187
- 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: 799 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 799 SVs from 73 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6620176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 130,265,645 | 130,426,831 |
nsv6620176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 132,063,909 | 132,225,095 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18300484 | deletion | OSC5457 | SNP array | Probe signal intensity | nssv18300485, nssv18300833, nssv18301115 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18300484 | Remapped | Perfect | NC_000010.11:g.(?_ 130265645)_(130426 831_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 130,265,645 | 130,426,831 |
nssv18300484 | Submitted genomic | NC_000010.10:g.(?_ 132063909)_(132225 095_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 132,063,909 | 132,225,095 |