nsv6135699
- 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:92,404
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: 221 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 221 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6135699 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 42,305,777 | 42,305,794 | 42,398,170 | 42,398,180 |
nsv6135699 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 42,273,515 | 42,273,532 | 42,365,908 | 42,365,918 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17677717 | deletion | SAMN20524656 | Sequencing | Paired-end mapping | 419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17677717 | Remapped | Perfect | NC_000006.12:g.(42 305777_42305794)_( 42398170_42398180) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 42,305,777 | 42,305,794 | 42,398,170 | 42,398,180 |
nssv17677717 | Submitted genomic | NC_000006.11:g.(42 273515_42273532)_( 42365908_42365918) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 42,273,515 | 42,273,532 | 42,365,908 | 42,365,918 |