nsv3900281
- 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:82,141,780
- Description:GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 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: 230221 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 230220 SVs from 154 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900281 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 19,811,558 | 101,953,337 |
| nsv3900281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,016,811 | 102,493,540 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15172447 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000751155.2, VCV000614519.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15172447 | Remapped | Good | NC_000015.10:g.(?_ 19811558)_(1019533 37_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 19,811,558 | 101,953,337 |
| nssv15172447 | Submitted genomic | NC_000015.9:g.(?_2 0016811)_(10249354 0_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,016,811 | 102,493,540 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15172447 | GRCh37: NC_000015.9:g.(?_20016811)_(102493540_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000751155.2, VCV000614519.2 | 3 |