nsv4729204
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:357,525
- Description:GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1243 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1243 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729204 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 53,220,494 | 53,578,018 |
| nsv4729204 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,614,278 | 53,971,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255449 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001259613.1, VCV000980437.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255449 | Remapped | Perfect | NC_000012.12:g.(?_ 53220494)_(5357801 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 53,220,494 | 53,578,018 |
| nssv16255449 | Submitted genomic | NC_000012.11:g.(?_ 53614278)_(5397180 2_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,614,278 | 53,971,802 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255449 | GRCh37: NC_000012.11:g.(?_53614278)_(53971802_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001259613.1, VCV000980437.1 | 1 |