nsv3922272
- 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:30,147,322
- Description:GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)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: 81628 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 79343 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 18980 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922272 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 80,106 | 30,227,427 |
| nsv3922272 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 60,747 | 29,462,103 |
| nsv3922272 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 8,747 | 28,075,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161063 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133996.5, VCV000144514.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161063 | Submitted genomic | NC_000020.11:g.(?_ 80106)_(30227427_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 80,106 | 30,227,427 |
| nssv15161063 | Submitted genomic | NC_000020.10:g.(?_ 60747)_(29462103_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 60,747 | 29,462,103 |
| nssv15161063 | Submitted genomic | NC_000020.9:g.(?_8 747)_(28075764_?)d up | NCBI36 (hg18) | NC_000020.9 | Chr20 | 8,747 | 28,075,764 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161063 | GRCh37: NC_000020.10:g.(?_60747)_(29462103_?)dup, GRCh38: NC_000020.11:g.(?_80106)_(30227427_?)dup, NCBI36: NC_000020.9:g.(?_8747)_(28075764_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133996.5, VCV000144514.2 | 3 |