nsv917686
- 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:349,173
- 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: 899 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 899 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 265 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 |
---|---|---|---|---|---|---|---|---|---|
nsv917686 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,166,742 | 7,515,914 |
nsv917686 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 7,084,783 | 7,433,955 |
nsv917686 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 7,094,783 | 7,443,955 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1606654 | copy number loss | ISCA_ID_pn_2260 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1606654 | Remapped | Perfect | NC_000023.11:g.(?_ 7166742)_(7515914_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,166,742 | 7,515,914 |
nssv1606654 | Remapped | Perfect | NC_000023.10:g.(?_ 7084783)_(7433955_ ?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 7,084,783 | 7,433,955 |
nssv1606654 | Submitted genomic | NC_000023.9:g.(?_7 094783)_(7443955_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 7,094,783 | 7,443,955 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1606654 | ISCA_ID_pn_2260 | NCBI36: NC_000023.9:g.(?_7094783)_(7443955_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Pathogenic | Submitter | Male | 10 weeks gestation | 0 |