nsv918040
- 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:447,371
- 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: 876 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 877 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 283 SVs from 11 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 |
---|---|---|---|---|---|---|---|---|---|
nsv918040 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 79,690,389 | 80,137,759 |
nsv918040 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 78,945,886 | 79,393,258 |
nsv918040 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 78,832,542 | 79,279,914 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1605877 | copy number gain | ISCA_ID_pn_1574 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Likely benign | Submitter | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1605877 | Remapped | Perfect | NC_000023.11:g.(?_ 79690389)_(8013775 9_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 79,690,389 | 80,137,759 |
nssv1605877 | Remapped | Perfect | NC_000023.10:g.(?_ 78945886)_(7939325 8_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 78,945,886 | 79,393,258 |
nssv1605877 | Submitted genomic | NC_000023.9:g.(?_7 8832542)_(79279914 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 78,832,542 | 79,279,914 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1605877 | ISCA_ID_pn_1574 | NCBI36: NC_000023.9:g.(?_78832542)_(79279914_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Likely benign | Submitter | Female | 11 weeks gestation | 3 |