nsv4380283
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:488,115
- Publication(s):Zarrei et al. 2019
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: 2255 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2429 SVs from 108 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4380283 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 65,209,082 | 65,697,196 |
nsv4380283 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 64,669,460 | 65,162,169 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15673142 | copy number loss | 9-0028-002 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15673142 | Remapped | Good | NC_000007.14:g.(?_ 65209082)_(6569719 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 65,209,082 | 65,697,196 |
nssv15673142 | Submitted genomic | NC_000007.13:g.(?_ 64669460)_(6516216 9_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 64,669,460 | 65,162,169 |