nsv3404892
- 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:29,860
- 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: 535 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 536 SVs from 47 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3404892 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 34,024,874 | 34,054,733 | ||
nsv3404892 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 34,042,991 | 34,072,850 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14792900 | deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14792900 | Submitted genomic | NC_000023.11:g.340 24874_34054733del | GRCh38 (hg38) | NC_000023.11 | ChrX | 34,024,874 | 34,054,733 | ||
nssv14792900 | Remapped | Perfect | NC_000023.10:g.340 42991_34072850delN C_000023.10:g.3404 2991_34072850del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 34,042,991 | 34,072,850 |