nsv3920510
- 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:1,454,437
- Description:GRCh38/hg38 20p12.3(chr20:7123110-8577546)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: 4160 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 4161 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 989 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3920510 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 7,123,110 | 8,577,546 |
nsv3920510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 7,103,757 | 8,558,193 |
nsv3920510 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 7,051,757 | 8,506,193 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15132007 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050394.7, VCV000056985.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15132007 | Submitted genomic | NC_000020.11:g.(?_ 7123110)_(8577546_ ?)dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 7,123,110 | 8,577,546 |
nssv15132007 | Submitted genomic | NC_000020.10:g.(?_ 7103757)_(8558193_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 7,103,757 | 8,558,193 |
nssv15132007 | Submitted genomic | NC_000020.9:g.(?_7 051757)_(8506193_? )dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 7,051,757 | 8,506,193 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15132007 | GRCh37: NC_000020.10:g.(?_7103757)_(8558193_?)dup, GRCh38: NC_000020.11:g.(?_7123110)_(8577546_?)dup, NCBI36: NC_000020.9:g.(?_7051757)_(8506193_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050394.7, VCV000056985.2 | 3 |