nsv6637075
- 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:8,615,763
- Description:GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)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: 22701 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 22701 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637075 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 16,247,571 | 24,863,333 |
| nsv6637075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 16,249,194 | 24,864,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18328862 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474848.1, VCV001809003.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328862 | Remapped | Perfect | NC_000004.12:g.(?_ 16247571)_(2486333 3_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 16,247,571 | 24,863,333 |
| nssv18328862 | Submitted genomic | NC_000004.11:g.(?_ 16249194)_(2486495 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 16,249,194 | 24,864,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18328862 | GRCh37: NC_000004.11:g.(?_16249194)_(24864955_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002474848.1, VCV001809003.1 | 1 |