nsv6133857
- 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:7,210,002
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: 16844 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 16848 SVs from 115 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133857 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 215,746,658 | 222,956,659 |
nsv6133857 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 215,920,000 | 223,130,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17681839 | copy number gain | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17681839 | Remapped | Perfect | NC_000001.11:g.215 746658_222956659du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 215,746,658 | 222,956,659 |
nssv17681839 | Submitted genomic | NC_000001.10:g.215 920000_223130001du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 215,920,000 | 223,130,001 |