nsv3919726
- 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:2,903,585
- Description:
GRCh38/hg38 17p13.3(chr17:198748-3102332)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: 19244 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 16809 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3908 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 |
|---|---|---|---|---|---|---|---|
| nsv3919726 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 198,748 | 3,102,332 |
| nsv3919726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,690 | 3,005,626 |
| nsv3919726 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 48,539 | 2,952,376 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132624 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050936.5, VCV000057265.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132624 | Submitted genomic | NC_000017.11:g.(?_ 198748)_(3102332_? )del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 198,748 | 3,102,332 |
| nssv15132624 | Submitted genomic | NC_000017.10:g.(?_ 50690)_(3005626_?) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,690 | 3,005,626 |
| nssv15132624 | Submitted genomic | NC_000017.9:g.(?_4 8539)_(2952376_?)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 48,539 | 2,952,376 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132624 | GRCh37: NC_000017.10:g.(?_50690)_(3005626_?)del, GRCh38: NC_000017.11:g.(?_198748)_(3102332_?)del, NCBI36: NC_000017.9:g.(?_48539)_(2952376_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050936.5, VCV000057265.1 | 1 |