nsv6133704
- 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:9,545,494
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: 39439 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 42430 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6133704 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 44,525,967 | 54,071,460 |
| nsv6133704 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,030,000 | 55,230,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17678272 | copy number loss | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17678272 | Remapped | Pass | NC_000019.10:g.445 25967_54071460del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 44,525,967 | 54,071,460 |
| nssv17678272 | Submitted genomic | NC_000019.9:g.4503 0000_55230001del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,030,000 | 55,230,001 |