nsv3921456
- 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:545,884
- Description:GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)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: 2661 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2777 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1436 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921456 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 46,444,520 | 46,990,403 |
| nsv3921456 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,485,771 | 45,067,769 |
| nsv3921456 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 41,841,187 | 42,422,768 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161741 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053135.4, VCV000059307.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161741 | Submitted genomic | NC_000017.11:g.(?_ 46444520)_(4699040 3_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 46,444,520 | 46,990,403 |
| nssv15161741 | Submitted genomic | NC_000017.10:g.(?_ 44485771)_(4506776 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,485,771 | 45,067,769 |
| nssv15161741 | Submitted genomic | NC_000017.9:g.(?_4 1841187)_(42422768 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,841,187 | 42,422,768 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161741 | GRCh37: NC_000017.10:g.(?_44485771)_(45067769_?)dup, GRCh38: NC_000017.11:g.(?_46444520)_(46990403_?)dup, NCBI36: NC_000017.9:g.(?_41841187)_(42422768_?)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV000053135.4, VCV000059307.1 | 3 |