nsv6291127
- 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:6,981,289
- Description:GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)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: 17415 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17415 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 69,690,696 | 76,671,984 |
| nsv6291127 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 70,084,476 | 77,065,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957078 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834178.1, VCV001340527.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957078 | Remapped | Perfect | NC_000012.12:g.(?_ 69690696)_(7667198 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 69,690,696 | 76,671,984 |
| nssv17957078 | Submitted genomic | NC_000012.11:g.(?_ 70084476)_(7706576 4_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 70,084,476 | 77,065,764 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957078 | GRCh37: NC_000012.11:g.(?_70084476)_(77065764_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834178.1, VCV001340527.1 | 1 |