nsv3904771
- 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:11,132,384
- Description:GRCh37/hg19 17p13.3-12(chr17:525-11186432)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: 47361 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 44372 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904771 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 150,732 | 11,283,115 |
| nsv3904771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 525 | 11,186,432 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154821 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000683866.1, VCV000564377.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154821 | Remapped | Good | NC_000017.11:g.(?_ 150732)_(11283115_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 150,732 | 11,283,115 |
| nssv15154821 | Submitted genomic | NC_000017.10:g.(?_ 525)_(11186432_?)d up | GRCh37 (hg19) | NC_000017.10 | Chr17 | 525 | 11,186,432 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154821 | GRCh37: NC_000017.10:g.(?_525)_(11186432_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000683866.1, VCV000564377.1 | 3 |