nsv3920391
- 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:26,701,583
- Description:GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)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: 58683 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 58337 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 14851 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920391 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 35,201,559 | 61,903,141 |
| nsv3920391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 35,201,661 | 61,198,968 |
| nsv3920391 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 35,237,418 | 61,234,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146722 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137302.5, VCV000148227.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146722 | Submitted genomic | NC_000005.10:g.(?_ 35201559)_(6190314 1_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 35,201,559 | 61,903,141 |
| nssv15146722 | Submitted genomic | NC_000005.9:g.(?_3 5201661)_(61198968 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 35,201,661 | 61,198,968 |
| nssv15146722 | Submitted genomic | NC_000005.8:g.(?_3 5237418)_(61234725 _?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 35,237,418 | 61,234,725 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146722 | GRCh37: NC_000005.9:g.(?_35201661)_(61198968_?)dup, GRCh38: NC_000005.10:g.(?_35201559)_(61903141_?)dup, NCBI36: NC_000005.8:g.(?_35237418)_(61234725_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000137302.5, VCV000148227.2 | 3 |