nsv3923117
- 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:817,753
- Description:GRCh38/hg38 17q21.31(chr17:43080123-43897875)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: 2911 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2725 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 616 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923117 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 43,080,123 | 43,897,875 |
| nsv3923117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,232,140 | 41,975,243 |
| nsv3923117 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 38,485,666 | 39,330,769 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137234 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137690.5, VCV000148621.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137234 | Submitted genomic | NC_000017.11:g.(?_ 43080123)_(4389787 5_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,080,123 | 43,897,875 |
| nssv15137234 | Submitted genomic | NC_000017.10:g.(?_ 41232140)_(4197524 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,232,140 | 41,975,243 |
| nssv15137234 | Submitted genomic | NC_000017.9:g.(?_3 8485666)_(39330769 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 38,485,666 | 39,330,769 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137234 | GRCh37: NC_000017.10:g.(?_41232140)_(41975243_?)dup, GRCh38: NC_000017.11:g.(?_43080123)_(43897875_?)dup, NCBI36: NC_000017.9:g.(?_38485666)_(39330769_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000137690.5, VCV000148621.2 | 3 |