nsv515476
- Organism: Homo sapiens
- Study:nstd52 (Watkins et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Description:This variant was discovered in the unaffected parent of a patient with generalized arterial calcification of infancy (OMIM:208000). The other parent was a carrier for a point mutation in the ENPP1 gene. Further analyses confirmed that the patient inherited both the deletion and the point mutation.
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: 1693 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1693 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv515476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 131,294,285 | 131,298,795 | 131,896,994 | 131,907,437 |
| nsv515476 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 131,615,425 | 131,619,935 | 132,218,134 | 132,228,577 |
| nsv515476 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 131,657,118 | 131,661,628 | 132,259,827 | 132,270,270 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number | Zygosity |
|---|---|---|---|---|---|---|---|---|---|
| nssv628513 | copy number loss | 86827 | SNP array | SNP genotyping analysis | None | Pathogenic | Submitter | 1 | Heterozygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv628513 | Remapped | Perfect | NC_000006.12:g.(13 1294285_131298795) _(131896994_131907 437)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 131,294,285 | 131,298,795 | 131,896,994 | 131,907,437 |
| nssv628513 | Remapped | Perfect | NC_000006.11:g.(13 1615425_131619935) _(132218134_132228 577)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 131,615,425 | 131,619,935 | 132,218,134 | 132,228,577 |
| nssv628513 | Submitted genomic | NC_000006.10:g.(13 1657118_131661628) _(132259827_132270 270)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 131,657,118 | 131,661,628 | 132,259,827 | 132,270,270 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv628513 | 2 | 86827 | qPCR | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv628513 | 86827 | NCBI36: NC_000006.10:g.(131657118_131661628)_(132259827_132270270)del | copy number loss | None | Pathogenic | Submitter | Male | 1 |