nsv3917730
- 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:951,164
- Description:GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4 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: 3318 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3318 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 981 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917730 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 78,484,862 | 79,436,025 |
| nsv3917730 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,480,944 | 77,432,107 |
| nsv3917730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 73,992,539 | 74,943,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138665 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000141790.4, VCV000153374.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138665 | Submitted genomic | NC_000017.11:g.(?_ 78484862)_(7943602 5_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 78,484,862 | 79,436,025 |
| nssv15138665 | Submitted genomic | NC_000017.10:g.(?_ 76480944)_(7743210 7_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,480,944 | 77,432,107 |
| nssv15138665 | Submitted genomic | NC_000017.9:g.(?_7 3992539)_(74943702 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 73,992,539 | 74,943,702 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138665 | GRCh37: NC_000017.10:g.(?_76480944)_(77432107_?)dup, GRCh38: NC_000017.11:g.(?_78484862)_(79436025_?)dup, NCBI36: NC_000017.9:g.(?_73992539)_(74943702_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000141790.4, VCV000153374.2 | 4 |