nsv3910343
- 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:2,305,846
- Description:GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)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: 7714 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7715 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2002 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910343 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 5,732,977 | 8,038,822 |
| nsv3910343 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 5,636,297 | 7,942,140 |
| nsv3910343 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 5,577,021 | 7,882,865 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132659 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051043.4, VCV000057356.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132659 | Submitted genomic | NC_000017.11:g.(?_ 5732977)_(8038822_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 5,732,977 | 8,038,822 |
| nssv15132659 | Submitted genomic | NC_000017.10:g.(?_ 5636297)_(7942140_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 5,636,297 | 7,942,140 |
| nssv15132659 | Submitted genomic | NC_000017.9:g.(?_5 577021)_(7882865_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 5,577,021 | 7,882,865 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132659 | GRCh37: NC_000017.10:g.(?_5636297)_(7942140_?)del, GRCh38: NC_000017.11:g.(?_5732977)_(8038822_?)del, NCBI36: NC_000017.9:g.(?_5577021)_(7882865_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051043.4, VCV000057356.1 | 1 |