nsv471713
- Organism: Homo sapiens
- Study:nstd33 (Sharp et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Publication(s):Sharp et al. 2007
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: 9035 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 9036 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471713 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,318,151 | 76,128,700 |
| nsv471713 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 72,610,492 | 76,421,041 |
| nsv471713 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 70,397,546 | 74,208,096 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|---|
| nssv551233 | copy number loss | IMR371 | Oligo aCGH | Probe signal intensity | None | Pathogenic | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv551233 | Remapped | Perfect | NC_000015.10:g.(?_ 72318151)_(7612870 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,318,151 | 76,128,700 |
| nssv551233 | Remapped | Perfect | NC_000015.9:g.(?_7 2610492)_(76421041 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 72,610,492 | 76,421,041 |
| nssv551233 | Submitted genomic | NC_000015.8:g.(?_7 0397546)_(74208096 _?)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 70,397,546 | 74,208,096 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv551233 | 2 | IMR371 | Sequencing | Sequence alignment | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv551233 | IMR371 | NCBI35: NC_000015.8:g.(?_70397546)_(74208096_?)del | copy number loss | de novo | None | Pathogenic | Submitter | Male |