nsv6136168
- 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:150,002
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: 386 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6136168 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 129,808,855 | 129,958,856 |
nsv6136168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 130,130,000 | 130,280,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682108 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17682108 | Remapped | Perfect | NC_000006.12:g.129 808855_129958856de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 129,808,855 | 129,958,856 |
nssv17682108 | Submitted genomic | NC_000006.11:g.130 130000_130280001de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 130,130,000 | 130,280,001 |