nsv6132092
- 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:470,003
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: 1366 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1366 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6132092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 125,470,104 | 125,940,106 |
nsv6132092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 125,340,000 | 125,810,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682427 | copy number gain | SAMN20524665 | Sequencing | Paired-end mapping | 405 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17682427 | Remapped | Perfect | NC_000011.10:g.125 470104_125940106du p | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 125,470,104 | 125,940,106 |
nssv17682427 | Submitted genomic | NC_000011.9:g.1253 40000_125810001dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 125,340,000 | 125,810,001 |