nsv6134457
- 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:37,130,018
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: 97140 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 97141 SVs from 138 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6134457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 38,182,858 | 75,312,875 |
nsv6134457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 38,410,000 | 75,540,001 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678384 | copy number loss | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17678384 | Remapped | Perfect | NC_000002.12:g.381 82858_75312875del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 38,182,858 | 75,312,875 |
nssv17678384 | Submitted genomic | NC_000002.11:g.384 10000_75540001del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 38,410,000 | 75,540,001 |