nsv3920795
- 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:3,195,961
- Description:GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 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: 12634 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 12636 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2935 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920795 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 2,062,380 | 5,258,340 |
| nsv3920795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,965,674 | 5,161,635 |
| nsv3920795 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 1,912,424 | 5,102,359 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133287 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133721.5, VCV000144239.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133287 | Submitted genomic | NC_000017.11:g.(?_ 2062380)_(5258340_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 2,062,380 | 5,258,340 |
| nssv15133287 | Submitted genomic | NC_000017.10:g.(?_ 1965674)_(5161635_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,965,674 | 5,161,635 |
| nssv15133287 | Submitted genomic | NC_000017.9:g.(?_1 912424)_(5102359_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 1,912,424 | 5,102,359 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133287 | GRCh37: NC_000017.10:g.(?_1965674)_(5161635_?)del, GRCh38: NC_000017.11:g.(?_2062380)_(5258340_?)del, NCBI36: NC_000017.9:g.(?_1912424)_(5102359_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133721.5, VCV000144239.2 | 1 |