nsv917498
- 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:50,521
- 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: 901 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 899 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|
nsv917498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 204,192 | 254,712 |
nsv917498 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 204,192 | 254,712 |
nsv917498 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 194,192 | 244,712 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1607127 | copy number loss | ISCA_ID_pn_532 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1607127 | Remapped | Perfect | NC_000009.12:g.(?_ 204192)_(254712_?) del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 204,192 | 254,712 |
nssv1607127 | Remapped | Perfect | NC_000009.11:g.(?_ 204192)_(254712_?) del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 204,192 | 254,712 |
nssv1607127 | Submitted genomic | NC_000009.10:g.(?_ 194192)_(244712_?) del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 194,192 | 244,712 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1607127 | ISCA_ID_pn_532 | NCBI36: NC_000009.10:g.(?_194192)_(244712_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Likely benign | Submitter | Female | 18 weeks gestation | 1 |