nsv1191356
- 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:109,499
- 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: 978 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 983 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,807,158 | 247,916,656 |
| nsv1191356 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 247,970,460 | 248,079,958 |
| nsv1191356 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 246,037,083 | 246,146,581 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7463618 | copy number loss | 23147 | Oligo aCGH | Probe signal intensity | nssv7459157, nssv7472853 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7463618 | Remapped | Perfect | NC_000001.11:g.(?_ 247807158)_(247916 656_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,807,158 | 247,916,656 |
| nssv7463618 | Remapped | Perfect | NC_000001.10:g.(?_ 247970460)_(248079 958_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 247,970,460 | 248,079,958 |
| nssv7463618 | Submitted genomic | NC_000001.9:g.(?_2 46037083)_(2461465 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,037,083 | 246,146,581 |