nsv3895627
- 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:484
- Description:GRCh37/hg19 12q24.21(chr12:116715268-116715751)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: 113 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3895627 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 116,277,463 | 116,277,946 |
| nsv3895627 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 116,715,268 | 116,715,751 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15171231 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000750596.2, VCV000613960.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15171231 | Remapped | Perfect | NC_000012.12:g.(?_ 116277463)_(116277 946_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 116,277,463 | 116,277,946 |
| nssv15171231 | Submitted genomic | NC_000012.11:g.(?_ 116715268)_(116715 751_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 116,715,268 | 116,715,751 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15171231 | GRCh37: NC_000012.11:g.(?_116715268)_(116715751_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000750596.2, VCV000613960.2 | 1 |