nsv3921590
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:793,647
- Description:
GRCh38/hg38 17p13.3(chr17:847955-1641601)x3 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: 6547 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6547 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1406 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921590 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 847,955 | 1,641,601 |
| nsv3921590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 751,195 | 1,544,895 |
| nsv3921590 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 697,945 | 1,491,645 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133936 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135574.5, VCV000146265.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133936 | Submitted genomic | NC_000017.11:g.(?_ 847955)_(1641601_? )dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 847,955 | 1,641,601 |
| nssv15133936 | Submitted genomic | NC_000017.10:g.(?_ 751195)_(1544895_? )dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 751,195 | 1,544,895 |
| nssv15133936 | Submitted genomic | NC_000017.9:g.(?_6 97945)_(1491645_?) dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 697,945 | 1,491,645 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133936 | GRCh37: NC_000017.10:g.(?_751195)_(1544895_?)dup, GRCh38: NC_000017.11:g.(?_847955)_(1641601_?)dup, NCBI36: NC_000017.9:g.(?_697945)_(1491645_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000135574.5, VCV000146265.2 | 3 |