nsv4347528
- 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:14,981,295
- Description:GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) 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: 39229 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 39229 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4347528 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 12,777,225 | 27,758,519 |
| nsv4347528 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 12,778,849 | 27,760,141 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605890 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767707.1, VCV000625699.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605890 | Remapped | Perfect | NC_000004.12:g.(?_ 12777225)_(2775851 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,777,225 | 27,758,519 |
| nssv15605890 | Submitted genomic | NC_000004.11:g.(?_ 12778849)_(2776014 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 12,778,849 | 27,760,141 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605890 | GRCh37: NC_000004.11:g.(?_12778849)_(27760141_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000767707.1, VCV000625699.1 |