nsv6636256
- 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:12,773,377
- Description:GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)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: 47579 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 47457 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636256 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,001 | 12,783,377 |
| nsv6636256 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 1 | 12,785,001 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330206 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002473938.1, VCV001808621.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330206 | Remapped | Good | NC_000004.12:g.(?_ 10001)_(12783377_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,001 | 12,783,377 |
| nssv18330206 | Submitted genomic | NC_000004.11:g.(?_ 1)_(12785001_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 1 | 12,785,001 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330206 | GRCh37: NC_000004.11:g.(?_1)_(12785001_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002473938.1, VCV001808621.1 | 1 |