nsv6131898
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:810,002
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: 1944 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1944 SVs from 79 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6131898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 93,630,243 | 94,440,244 |
nsv6131898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 95,390,000 | 96,200,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17679245 | copy number loss | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17679245 | Remapped | Perfect | NC_000010.11:g.936 30243_94440244del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 93,630,243 | 94,440,244 |
nssv17679245 | Submitted genomic | NC_000010.10:g.953 90000_96200001del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 95,390,000 | 96,200,001 |