nsv4674432
- 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:1,122,322
- Description:GRCh37/hg19 4q35.1(chr4:184695117-185817439)x3 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: 3927 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3929 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674432 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 183,773,964 | 184,896,285 |
| nsv4674432 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 184,695,117 | 185,817,439 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206741 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005628.1, VCV000814638.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206741 | Remapped | Perfect | NC_000004.12:g.(?_ 183773964)_(184896 285_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 183,773,964 | 184,896,285 |
| nssv16206741 | Submitted genomic | NC_000004.11:g.(?_ 184695117)_(185817 439_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 184,695,117 | 185,817,439 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206741 | GRCh37: NC_000004.11:g.(?_184695117)_(185817439_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005628.1, VCV000814638.1 | 3 |