nsv917540
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Publication(s):Wapner et al. 2012
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: 1482 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1482 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv917540 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 6,787,226 | 7,515,915 |
| nsv917540 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 6,705,267 | 7,433,956 |
| nsv917540 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 6,715,267 | 7,443,956 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1606710 | copy number loss | ISCA_ID_pn_2309 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Likely benign | Submitter | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606710 | Remapped | Perfect | NC_000023.11:g.(?_ 6787226)_(7515915_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 6,787,226 | 7,515,915 |
| nssv1606710 | Remapped | Perfect | NC_000023.10:g.(?_ 6705267)_(7433956_ ?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 6,705,267 | 7,433,956 |
| nssv1606710 | Submitted genomic | NC_000023.9:g.(?_6 715267)_(7443956_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 6,715,267 | 7,443,956 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1606710 | 2 | ISCA_ID_pn_2309 | FISH | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606710 | ISCA_ID_pn_2309 | NCBI36: NC_000023.9:g.(?_6715267)_(7443956_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Likely benign | Submitter | Female | 13 weeks gestation | 1 |