nsv3924631
- 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:3,728,477
- Description:GRCh38/hg38 17p11.2(chr17:16699816-20428292)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: 10387 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 10387 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 2525 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924631 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 16,699,816 | 20,428,292 |
| nsv3924631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 16,603,130 | 20,331,605 |
| nsv3924631 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 16,543,855 | 20,272,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139237 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143181.5, VCV000155114.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139237 | Submitted genomic | NC_000017.11:g.(?_ 16699816)_(2042829 2_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 16,699,816 | 20,428,292 |
| nssv15139237 | Submitted genomic | NC_000017.10:g.(?_ 16603130)_(2033160 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 16,603,130 | 20,331,605 |
| nssv15139237 | Submitted genomic | NC_000017.9:g.(?_1 6543855)_(20272197 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 16,543,855 | 20,272,197 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139237 | GRCh37: NC_000017.10:g.(?_16603130)_(20331605_?)del, GRCh38: NC_000017.11:g.(?_16699816)_(20428292_?)del, NCBI36: NC_000017.9:g.(?_16543855)_(20272197_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143181.5, VCV000155114.2 | 1 |