nsv4674196
- 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:11,350,664
- Description:GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)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: 34328 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 34339 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674196 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,912,382 | 17,263,045 |
| nsv4674196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 5,914,109 | 17,264,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207944 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005519.1, VCV000814529.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207944 | Remapped | Good | NC_000004.12:g.(?_ 5912382)_(17263045 _?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,912,382 | 17,263,045 |
| nssv16207944 | Submitted genomic | NC_000004.11:g.(?_ 5914109)_(17264668 _?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 5,914,109 | 17,264,668 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207944 | GRCh37: NC_000004.11:g.(?_5914109)_(17264668_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005519.1, VCV000814529.1 | 1 |