nsv3409845
- 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:17,279
- 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: 504 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 11 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3409845 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 135,858,786 | 135,876,064 | ||
nsv3409845 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 134,940,970 | 134,958,224 |
nsv3409845 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 789,929 | 807,207 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14805139 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14805139 | Submitted genomic | NC_000023.11:g.135 858786_135876064de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 135,858,786 | 135,876,064 | ||
nssv14805139 | Remapped | Perfect | NW_004070887.1:g.7 89929_807207delNW_ 004070887.1:g.7899 29_807207del | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 789,929 | 807,207 |
nssv14805139 | Remapped | Good | NC_000023.10:g.134 940970_134958224de lNC_000023.10:g.13 4940970_134958224d el | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 134,940,970 | 134,958,224 |