nsv4674606
- 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:57,140
- Description:GRCh37/hg19 4q26(chr4:120191740-120248879)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: 302 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 302 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674606 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 119,270,585 | 119,327,724 |
| nsv4674606 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 120,191,740 | 120,248,879 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207986 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005594.2, VCV000814604.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207986 | Remapped | Perfect | NC_000004.12:g.(?_ 119270585)_(119327 724_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 119,270,585 | 119,327,724 |
| nssv16207986 | Submitted genomic | NC_000004.11:g.(?_ 120191740)_(120248 879_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 120,191,740 | 120,248,879 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207986 | GRCh37: NC_000004.11:g.(?_120191740)_(120248879_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001005594.2, VCV000814604.2 | 1 |