nsv471710
- Organism: Homo sapiens
- Study:nstd33 (Sharp et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,859,998
- 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: 10630 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 10632 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471710 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,070,606 | 77,930,603 |
| nsv471710 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 74,362,947 | 78,222,945 |
| nsv471710 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 72,150,000 | 76,010,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Zygosity |
|---|---|---|---|---|---|---|---|---|
| nssv551230 | copy number loss | IMR349 | Oligo aCGH | Probe signal intensity | None | Pathogenic | Submitter | Hemizygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv551230 | Remapped | Perfect | NC_000015.10:g.(?_ 74070606)_(7793060 3_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,070,606 | 77,930,603 |
| nssv551230 | Remapped | Perfect | NC_000015.9:g.(?_7 4362947)_(78222945 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 74,362,947 | 78,222,945 |
| nssv551230 | Submitted genomic | NC_000015.8:g.(?_7 2150000)_(76010000 _?)del | NCBI35 (hg17) | NC_000015.8 | Chr15 | 72,150,000 | 76,010,000 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender |
|---|---|---|---|---|---|---|---|---|
| nssv551230 | IMR349 | NCBI35: NC_000015.8:g.(?_72150000)_(76010000_?)del | copy number loss | de novo | None | Pathogenic | Submitter | Male |