nsv1190752
- 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:583,007
- 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: 2038 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2043 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 655 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190752 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 236,485,021 | 237,068,027 |
| nsv1190752 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 236,648,321 | 237,231,327 |
| nsv1190752 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 234,714,944 | 235,297,950 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7472293 | copy number gain | 18465 | Oligo aCGH | Probe signal intensity | nssv7460045, nssv7461348, nssv7463732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7472293 | Remapped | Perfect | NC_000001.11:g.(?_ 236485021)_(237068 027_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 236,485,021 | 237,068,027 |
| nssv7472293 | Remapped | Perfect | NC_000001.10:g.(?_ 236648321)_(237231 327_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 236,648,321 | 237,231,327 |
| nssv7472293 | Submitted genomic | NC_000001.9:g.(?_2 34714944)_(2352979 50_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 234,714,944 | 235,297,950 |