nsv4376704
- 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:1,581,215
- 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: 7139 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 4146 SVs from 119 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4376704 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nsv4376704 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,090,538 | 47,692,945 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15642705 | copy number loss | 14-0358-002 | SNP array | Genotyping | 30 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15642705 | Remapped | Pass | NC_000010.11:g.(?_ 46157935)_(4773914 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,739,149 |
nssv15642705 | Submitted genomic | NC_000010.10:g.(?_ 47090538)_(4769294 5_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,090,538 | 47,692,945 |