nsv3911314
- 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:47,533
- Description:
GRCh38/hg38 20p13(chr20:80093-127625)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: 273 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 80,093 | 127,625 |
| nsv3911314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 60,734 | 108,266 |
| nsv3911314 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 8,734 | 56,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134523 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000135971.5, VCV000146724.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134523 | Submitted genomic | NC_000020.11:g.(?_ 80093)_(127625_?)d up | GRCh38 (hg38) | NC_000020.11 | Chr20 | 80,093 | 127,625 |
| nssv15134523 | Submitted genomic | NC_000020.10:g.(?_ 60734)_(108266_?)d up | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,734 | 108,266 |
| nssv15134523 | Submitted genomic | NC_000020.9:g.(?_8 734)_(56266_?)dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 8,734 | 56,266 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134523 | GRCh37: NC_000020.10:g.(?_60734)_(108266_?)dup, GRCh38: NC_000020.11:g.(?_80093)_(127625_?)dup, NCBI36: NC_000020.9:g.(?_8734)_(56266_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000135971.5, VCV000146724.2 | 3 |