nsv6629459
- 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:58,090
- 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: 621 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 621 SVs from 64 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6629459 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 187,192,939 | 187,251,028 |
nsv6629459 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 188,114,093 | 188,172,182 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18293086 | deletion | OSC4093 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18293086 | Remapped | Perfect | NC_000004.12:g.(?_ 187192939)_(187251 028_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 187,192,939 | 187,251,028 |
nssv18293086 | Submitted genomic | NC_000004.11:g.(?_ 188114093)_(188172 182_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 188,114,093 | 188,172,182 |