nsv3917235
- 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:924,782
- Description:GRCh38/hg38 17q12(chr17:33671106-34595887)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: 2139 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2139 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 575 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917235 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 33,671,106 | 34,595,887 |
| nsv3917235 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 31,998,125 | 32,922,906 |
| nsv3917235 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 29,022,238 | 29,947,019 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121270 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140285.4, VCV000151580.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121270 | Submitted genomic | NC_000017.11:g.(?_ 33671106)_(3459588 7_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 33,671,106 | 34,595,887 |
| nssv15121270 | Submitted genomic | NC_000017.10:g.(?_ 31998125)_(3292290 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 31,998,125 | 32,922,906 |
| nssv15121270 | Submitted genomic | NC_000017.9:g.(?_2 9022238)_(29947019 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 29,022,238 | 29,947,019 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121270 | GRCh37: NC_000017.10:g.(?_31998125)_(32922906_?)dup, GRCh38: NC_000017.11:g.(?_33671106)_(34595887_?)dup, NCBI36: NC_000017.9:g.(?_29022238)_(29947019_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000140285.4, VCV000151580.1 | 3 |