nsv6135872
- 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:14,780,003
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: 34339 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 34343 SVs from 127 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6135872 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 113,589,945 | 128,369,947 |
| nsv6135872 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 113,230,000 | 128,010,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678816 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678816 | Remapped | Perfect | NC_000007.14:g.113 589945_128369947du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 113,589,945 | 128,369,947 |
| nssv17678816 | Submitted genomic | NC_000007.13:g.113 230000_128010001du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 113,230,000 | 128,010,001 |