nsv935289
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:316,043
- Publication(s):de Ligt et al. 2013
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: 1310 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 1171 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv935289 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,940,599 | 1,940,599 | 2,256,641 | 2,256,641 |
nsv935289 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 2,059,492 | 2,059,492 | 2,174,682 | 2,174,682 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1664373 | copy number gain | 6 | Oligo aCGH | Probe signal intensity | 3 | 980 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1664373 | Remapped | Pass | NC_000023.11:g.(19 40599_?)_(?_225664 1)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,940,599 | 2,256,641 |
nssv1664373 | Submitted genomic | NC_000023.10:g.(20 59492_?)_(?_217468 2)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 2,059,492 | 2,174,682 |