nsv6624941
- 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:424,060
- 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: 4209 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 4208 SVs from 109 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6624941 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,779,968 | 43,204,027 |
nsv6624941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,284,120 | 43,708,179 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18286997 | deletion | OSC3062 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18286997 | Remapped | Perfect | NC_000019.10:g.(?_ 42779968)_(4320402 7_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,779,968 | 43,204,027 |
nssv18286997 | Submitted genomic | NC_000019.9:g.(?_4 3284120)_(43708179 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,284,120 | 43,708,179 |