nsv3905308
- 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:42,935,592
- Description:GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)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: 115856 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 116032 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905308 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 59,005,094 | 101,940,685 |
| nsv3905308 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 59,297,293 | 102,480,888 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147594 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000415836.3, VCV000369835.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15147594 | Remapped | Good | NC_000015.10:g.(?_ 59005094)_(1019406 85_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 59,005,094 | 101,940,685 |
| nssv15147594 | Submitted genomic | NC_000015.9:g.(?_5 9297293)_(10248088 8_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 59,297,293 | 102,480,888 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147594 | GRCh37: NC_000015.9:g.(?_59297293)_(102480888_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000415836.3, VCV000369835.3 | 3 |