nsv6629680
- 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:734,316
- 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: 2250 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2250 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6629680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 35,671,935 | 36,406,250 |
nsv6629680 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 35,673,557 | 36,407,872 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18304281 | deletion | OSC6216 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18304281 | Remapped | Perfect | NC_000004.12:g.(?_ 35671935)_(3640625 0_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 35,671,935 | 36,406,250 |
nssv18304281 | Submitted genomic | NC_000004.11:g.(?_ 35673557)_(3640787 2_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 35,673,557 | 36,407,872 |