nsv6112755
- 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:10,011,675
- Description:GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)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: 24006 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 24006 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 64,857,925 | 74,869,599 |
| nsv6112755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 65,251,705 | 75,263,379 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649865 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001537907.4, VCV001180525.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649865 | Remapped | Perfect | NC_000012.12:g.648 57925_74869599del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 64,857,925 | 74,869,599 |
| nssv17649865 | Submitted genomic | NC_000012.11:g.652 51705_75263379del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 65,251,705 | 75,263,379 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649865 | GRCh37: NC_000012.11:g.65251705_75263379del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV001537907.4, VCV001180525.4 | 1 |