nsv4456171
- 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:24,333,581
- Description:GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)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: 84843 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 84853 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 165,702,738 | 190,036,318 |
| nsv4456171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 166,623,890 | 190,957,473 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15771866 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000845722.2, VCV000685014.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15771866 | Remapped | Perfect | NC_000004.12:g.(?_ 165702738)_(190036 318_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 165,702,738 | 190,036,318 |
| nssv15771866 | Submitted genomic | NC_000004.11:g.(?_ 166623890)_(190957 473_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 166,623,890 | 190,957,473 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15771866 | GRCh37: NC_000004.11:g.(?_166623890)_(190957473_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000845722.2, VCV000685014.2 | 1 |