nsv3906002
- 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:5,497,344
- Description:GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 18897 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 7090 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 22394 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3906002 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,817,057 |
| nsv3906002 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv3906002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,421 | 29,062,203 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15149877 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510693.2, VCV000441588.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15149877 | Remapped | Pass | NW_011332701.1:g.( ?_1)_(4542614_?)de l | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nssv15149877 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2881705 7_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,817,057 |
| nssv15149877 | Submitted genomic | NC_000015.9:g.(?_2 2770421)_(29062203 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,421 | 29,062,203 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15149877 | GRCh37: NC_000015.9:g.(?_22770421)_(29062203_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510693.2, VCV000441588.2 | 1 |