nsv7137212
- 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:425,277
- Description:GRCh37/hg19 15q11.2(chr15:22770421-23195725) AND Chromosome 15q11.2 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2596 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 2812 SVs from 109 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137212 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,677,371 | 23,102,647 |
| nsv7137212 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,421 | 23,195,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830982 | copy number loss | Multiple | Multiple | 15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome | Pathogenic | ClinVar | RCV003319588.1, VCV002574691.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830982 | Remapped | Good | NC_000015.10:g.(22 677371_?)_(?_23102 647)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,677,371 | 23,102,647 |
| nssv18830982 | Submitted genomic | NC_000015.9:g.(227 70421_?)_(?_231957 25)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,421 | 23,195,725 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830982 | GRCh37: NC_000015.9:g.(22770421_?)_(?_23195725)del | copy number loss | unknown | 15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome | Pathogenic | ClinVar | RCV003319588.1, VCV002574691.1 |