nsv917640
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:498,132
- 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: 1081 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1092 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv917640 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,278,019 | 7,776,150 |
| nsv917640 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 7,196,060 | 7,744,191 |
| nsv917640 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 7,206,060 | 7,704,191 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1606142 | copy number loss | ISCA_ID_pn_1808 | Oligo aCGH | Probe signal intensity | Fetal megacystis | Benign | Submitter | 1,2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606142 | Remapped | Perfect | NC_000023.11:g.(?_ 7278019)_(7776150_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,278,019 | 7,776,150 |
| nssv1606142 | Remapped | Pass | NC_000023.10:g.(?_ 7196060)_(7744191_ ?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 7,196,060 | 7,744,191 |
| nssv1606142 | Submitted genomic | NC_000023.9:g.(?_7 206060)_(7704191_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 7,206,060 | 7,704,191 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606142 | ISCA_ID_pn_1808 | NCBI36: NC_000023.9:g.(?_7206060)_(7704191_?)del | copy number loss | Fetal megacystis | Benign | Submitter | Female | 12 weeks gestation | 1,2 |