nsv1068691
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,729
- Publication(s):Thareja et al. 2015
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: 1791 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv1068691 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000010.11 | Chr10 | 46,937,535 | 47,023,263 |
nsv1068691 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,529,199 | 46,614,900 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3765111 | deletion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3765111 | Remapped | Good | NC_000010.11:g.469 37535_47023263del | GRCh38.p12 | Second Pass | NC_000010.11 | Chr10 | 46,937,535 | 47,023,263 |
nssv3765111 | Submitted genomic | NC_000010.10:g.465 29199_46614900del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,529,199 | 46,614,900 |