nsv917788
- 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:43,164
- 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: 773 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 773 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv917788 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 606,912 | 650,075 |
| nsv917788 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 567,647 | 610,810 |
| nsv917788 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 487,647 | 530,810 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1607123 | copy number gain | ISCA_ID_pn_53 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607123 | Remapped | Perfect | NC_000023.11:g.(?_ 606912)_(650075_?) dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 606,912 | 650,075 |
| nssv1607123 | Remapped | Perfect | NC_000023.10:g.(?_ 567647)_(610810_?) dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 567,647 | 610,810 |
| nssv1607123 | Submitted genomic | NC_000023.9:g.(?_4 87647)_(530810_?)d up | NCBI36 (hg18) | NC_000023.9 | ChrX | 487,647 | 530,810 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607123 | ISCA_ID_pn_53 | NCBI36: NC_000023.9:g.(?_487647)_(530810_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 17 weeks gestation | 2 |