nsv6637197
- 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:3,859,361
- Description:GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)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: 10903 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10942 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637197 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,295,269 | 32,154,629 |
| nsv6637197 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 28,540,415 | 32,446,830 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330289 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474549.1, VCV001808704.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330289 | Remapped | Good | NC_000015.10:g.(?_ 28295269)_(3215462 9_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,295,269 | 32,154,629 |
| nssv18330289 | Submitted genomic | NC_000015.9:g.(?_2 8540415)_(32446830 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,540,415 | 32,446,830 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330289 | GRCh37: NC_000015.9:g.(?_28540415)_(32446830_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474549.1, VCV001808704.1 | 1 |