nsv1190334
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:987,699
- Publication(s):Polyak et al. 2015
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: 4136 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 4136 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1223 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190334 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 19,452,024 | 20,439,722 |
| nsv1190334 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 20,026,164 | 21,013,861 |
| nsv1190334 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 18,924,164 | 19,911,861 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7462690 | copy number loss | 16276 | Oligo aCGH | Probe signal intensity | nssv7459190 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7462690 | Remapped | Perfect | NC_000013.11:g.(?_ 19452024)_(2043972 2_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,452,024 | 20,439,722 |
| nssv7462690 | Remapped | Perfect | NC_000013.10:g.(?_ 20026164)_(2101386 1_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 20,026,164 | 21,013,861 |
| nssv7462690 | Submitted genomic | NC_000013.9:g.(?_1 8924164)_(19911861 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 18,924,164 | 19,911,861 |