nsv918245
- 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:101,530
- 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: 434 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 9 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 |
---|---|---|---|---|---|---|---|---|---|
nsv918245 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,627,778 | 8,729,307 |
nsv918245 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 8,595,819 | 8,697,348 |
nsv918245 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 8,555,819 | 8,657,348 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1605227 | copy number gain | ISCA_ID_pn_10 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1605227 | Remapped | Perfect | NC_000023.11:g.(?_ 8627778)_(8729307_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,627,778 | 8,729,307 |
nssv1605227 | Remapped | Perfect | NC_000023.10:g.(?_ 8595819)_(8697348_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,595,819 | 8,697,348 |
nssv1605227 | Submitted genomic | NC_000023.9:g.(?_8 555819)_(8657348_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,555,819 | 8,657,348 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1605227 | ISCA_ID_pn_10 | NCBI36: NC_000023.9:g.(?_8555819)_(8657348_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 11 weeks gestation | 3 |