nsv3913704
- 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:25,607,626
- Description:GRCh38/hg38 20p13-11.21(chr20:89939-25697564)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: 75978 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 75994 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 18064 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 |
|---|---|---|---|---|---|---|---|
| nsv3913704 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 89,939 | 25,697,564 |
| nsv3913704 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 70,580 | 25,678,200 |
| nsv3913704 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 18,580 | 25,626,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161728 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051227.5, VCV000057514.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161728 | Submitted genomic | NC_000020.11:g.(?_ 89939)_(25697564_? )dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 89,939 | 25,697,564 |
| nssv15161728 | Submitted genomic | NC_000020.10:g.(?_ 70580)_(25678200_? )dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 70,580 | 25,678,200 |
| nssv15161728 | Submitted genomic | NC_000020.9:g.(?_1 8580)_(25626200_?) dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 18,580 | 25,626,200 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161728 | GRCh37: NC_000020.10:g.(?_70580)_(25678200_?)dup, GRCh38: NC_000020.11:g.(?_89939)_(25697564_?)dup, NCBI36: NC_000020.9:g.(?_18580)_(25626200_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051227.5, VCV000057514.1 | 3 |