nsv6636672
- 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:26,051,282
- Description:GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)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: 89350 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 89380 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636672 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 113,462 | 26,164,743 |
| nsv6636672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 113,577 | 26,164,852 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329119 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475573.1, VCV001809200.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329119 | Remapped | Perfect | NC_000005.10:g.(?_ 113462)_(26164743_ ?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 113,462 | 26,164,743 |
| nssv18329119 | Submitted genomic | NC_000005.9:g.(?_1 13577)_(26164852_? )del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 113,577 | 26,164,852 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329119 | GRCh37: NC_000005.9:g.(?_113577)_(26164852_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002475573.1, VCV001809200.1 | 1 |