nsv3118385
- Organism: Homo sapiens
- Study:nstd149 (Gambin et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,681
- Publication(s):Gambin et al. 2017
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: 549 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 550 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3118385 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 23,377,596 | 23,469,276 |
nsv3118385 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 23,395,713 | 23,487,393 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv14109468 | copy number loss | PTCHD1_Pt2 | Oligo aCGH | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14109468 | Remapped | Perfect | NC_000023.11:g.233 77596_23469276del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 23,377,596 | 23,469,276 |
nssv14109468 | Submitted genomic | NC_000023.10:g.233 95713_23487393del | GRCh37 (hg19) | NC_000023.10 | ChrX | 23,395,713 | 23,487,393 |