nsv918004
- 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: 1444 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1444 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv918004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 8,824,305 | 9,402,759 |
| nsv918004 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 8,824,417 | 9,402,871 |
| nsv918004 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 8,877,417 | 9,455,871 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1606389 | copy number loss | ISCA_ID_pn_2028 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Uncertain significance | Submitter | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606389 | Remapped | Perfect | NC_000005.10:g.(?_ 8824305)_(9402759_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 8,824,305 | 9,402,759 |
| nssv1606389 | Remapped | Perfect | NC_000005.9:g.(?_8 824417)_(9402871_? )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 8,824,417 | 9,402,871 |
| nssv1606389 | Submitted genomic | NC_000005.8:g.(?_8 877417)_(9455871_? )del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 8,877,417 | 9,455,871 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv1606389 | 2 | ISCA_ID_pn_2028 | FISH | Manual observation | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1606389 | ISCA_ID_pn_2028 | NCBI36: NC_000005.8:g.(?_8877417)_(9455871_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Uncertain significance | Submitter | Male | 21 weeks gestation | 1 |