nsv6132885
- 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:2,040,002
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: 6009 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 6009 SVs from 96 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6132885 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 99,123,663 | 101,163,664 |
nsv6132885 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 99,590,000 | 101,630,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17682403 | copy number gain | SAMN20524655 | Sequencing | Paired-end mapping | 909 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17682403 | Remapped | Perfect | NC_000014.9:g.9912 3663_101163664dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 99,123,663 | 101,163,664 |
nssv17682403 | Submitted genomic | NC_000014.8:g.9959 0000_101630001dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 99,590,000 | 101,630,001 |