nsv6135917
- 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:2,340,002
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: 13044 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 13044 SVs from 128 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6135917 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 30,142,223 | 32,482,224 |
nsv6135917 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 30,110,000 | 32,450,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682300 | copy number loss | SAMN20524665 | Sequencing | Paired-end mapping | 405 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17682300 | Remapped | Perfect | NC_000006.12:g.301 42223_32482224del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 30,142,223 | 32,482,224 |
nssv17682300 | Submitted genomic | NC_000006.11:g.301 10000_32450001del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 30,110,000 | 32,450,001 |