nsv918068
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- 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: 610 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv918068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 120,484,330 | 120,835,748 |
| nsv918068 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 121,241,906 | 121,593,323 |
| nsv918068 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 120,958,376 | 121,309,793 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1607516 | copy number gain | ISCA_ID_pn_880 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Uncertain significance | Submitter | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607516 | Remapped | Perfect | NC_000002.12:g.(?_ 120484330)_(120835 748_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 120,484,330 | 120,835,748 |
| nssv1607516 | Remapped | Perfect | NC_000002.11:g.(?_ 121241906)_(121593 323_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 121,241,906 | 121,593,323 |
| nssv1607516 | Submitted genomic | NC_000002.10:g.(?_ 120958376)_(121309 793_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 120,958,376 | 121,309,793 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1607516 | 2 | ISCA_ID_pn_880 | FISH | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1607516 | ISCA_ID_pn_880 | NCBI36: NC_000002.10:g.(?_120958376)_(121309793_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Uncertain significance | Submitter | Female | 12 weeks gestation | 3 |