nsv918102
- 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: 183118 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 182925 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 61147 SVs from 44 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 |
---|---|---|---|---|---|---|---|---|---|
nsv918102 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,174 |
nsv918102 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,057 |
nsv918102 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 1,543 | 76,116,029 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1606083 | copy number gain | ISCA_ID_pn_1756 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Pathogenic | Submitter | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1606083 | Remapped | Pass | NC_000018.10:g.(?_ 11543)_(80257174_? )dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 11,543 | 80,257,174 |
nssv1606083 | Remapped | Good | NC_000018.9:g.(?_1 1543)_(78015057_?) dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 11,543 | 78,015,057 |
nssv1606083 | Submitted genomic | NC_000018.8:g.(?_1 543)_(76116029_?)d up | NCBI36 (hg18) | NC_000018.8 | Chr18 | 1,543 | 76,116,029 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv1606083 | 3 | ISCA_ID_pn_1756 | Karyotyping | Manual observation | Pass |
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
---|---|---|---|---|---|---|---|---|---|
nssv1606083 | ISCA_ID_pn_1756 | NCBI36: NC_000018.8:g.(?_1543)_(76116029_?)dup | copy number gain | Increased nuchal translucency | Pathogenic | Submitter | Male | 12 weeks gestation | 3 |