nsv3884243
- 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:7,311,037
- Description:GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 16656 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 16642 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 43,668,571 | 50,979,607 |
| nsv3884243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 43,636,308 | 50,947,320 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970096 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053568.3, VCV001527236.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970096 | Remapped | Perfect | NC_000006.12:g.(?_ 43668571)_(5097960 7_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 43,668,571 | 50,979,607 |
| nssv17970096 | Submitted genomic | NC_000006.11:g.(?_ 43636308)_(5094732 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 43,636,308 | 50,947,320 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970096 | GRCh37: NC_000006.11:g.(?_43636308)_(50947320_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053568.3, VCV001527236.3 |