nsv3885762
- 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:28,933,464
- Description:GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 89938 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 89879 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885762 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 71,660 | 29,005,123 |
| nsv3885762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,552 | 29,006,745 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146961 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240003.2, VCV000253431.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15146961 | Remapped | Good | NC_000004.12:g.(?_ 71660)_(29005123_? )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 71,660 | 29,005,123 |
| nssv15146961 | Submitted genomic | NC_000004.11:g.(?_ 71552)_(29006745_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,552 | 29,006,745 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146961 | GRCh37: NC_000004.11:g.(?_71552)_(29006745_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240003.2, VCV000253431.2 | 1 |