nsv6133950
- 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:27,850,009
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: 72562 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 72568 SVs from 139 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6133950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 178,100,865 | 205,950,873 |
nsv6133950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 178,070,000 | 205,920,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17680062 | copy number gain | SAMN20524654 | Sequencing | Paired-end mapping | 440 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17680062 | Remapped | Perfect | NC_000001.11:g.178 100865_205950873du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 178,100,865 | 205,950,873 |
nssv17680062 | Submitted genomic | NC_000001.10:g.178 070000_205920001du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 178,070,000 | 205,920,001 |