nsv6624906
- 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:31,673
- 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: 1005 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1005 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6624906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,843,734 | 40,875,406 |
nsv6624906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 41,349,639 | 41,381,311 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18303369 | deletion | OSC5980 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18303369 | Remapped | Perfect | NC_000019.10:g.(?_ 40843734)_(4087540 6_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,843,734 | 40,875,406 |
nssv18303369 | Submitted genomic | NC_000019.9:g.(?_4 1349639)_(41381311 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 41,349,639 | 41,381,311 |