nsv6134832
- 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:790,003
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: 2522 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2522 SVs from 102 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6134832 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 186,252,211 | 187,042,213 |
nsv6134832 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 185,970,000 | 186,760,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677634 | copy number gain | SAMN20524660 | Sequencing | Paired-end mapping | 208 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17677634 | Remapped | Perfect | NC_000003.12:g.186 252211_187042213du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 186,252,211 | 187,042,213 |
nssv17677634 | Submitted genomic | NC_000003.11:g.185 970000_186760001du p | GRCh37 (hg19) | NC_000003.11 | Chr3 | 185,970,000 | 186,760,001 |