nsv3386384
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,383
- Publication(s):Audano et al. 2019
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: 436 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3386384 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 89,344,873 | 89,370,255 | ||
nsv3386384 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 89,394,023 | 89,419,405 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14681446 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14681446 | Submitted genomic | NC_000003.12:g.893 44873_89370255del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 89,344,873 | 89,370,255 | ||
nssv14681446 | Remapped | Perfect | NC_000003.11:g.893 94023_89419405delN C_000003.11:g.8939 4023_89419405del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 89,394,023 | 89,419,405 |