nsv3920218
- 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:64,177,765
- Description:GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)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: 186014 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 182278 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 42387 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920218 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 99,557 | 64,277,321 |
| nsv3920218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 80,198 | 62,908,674 |
| nsv3920218 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 28,198 | 62,379,118 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161322 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135859.7, VCV000146596.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161322 | Submitted genomic | NC_000020.11:g.(?_ 99557)_(64277321_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 99,557 | 64,277,321 |
| nssv15161322 | Submitted genomic | NC_000020.10:g.(?_ 80198)_(62908674_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 80,198 | 62,908,674 |
| nssv15161322 | Submitted genomic | NC_000020.9:g.(?_2 8198)_(62379118_?) dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 28,198 | 62,379,118 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161322 | GRCh37: NC_000020.10:g.(?_80198)_(62908674_?)dup, GRCh38: NC_000020.11:g.(?_99557)_(64277321_?)dup, NCBI36: NC_000020.9:g.(?_28198)_(62379118_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135859.7, VCV000146596.2 | 3 |