nsv3919950
- 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:3,542,196
- Description:GRCh38/hg38 17q11.2(chr17:28947825-32490020)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: 10139 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 10140 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2212 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 28,947,825 | 32,490,020 |
| nsv3919950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 27,274,843 | 30,817,038 |
| nsv3919950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 24,298,969 | 27,841,151 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137973 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143027.4, VCV000154960.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137973 | Submitted genomic | NC_000017.11:g.(?_ 28947825)_(3249002 0_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 28,947,825 | 32,490,020 |
| nssv15137973 | Submitted genomic | NC_000017.10:g.(?_ 27274843)_(3081703 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 27,274,843 | 30,817,038 |
| nssv15137973 | Submitted genomic | NC_000017.9:g.(?_2 4298969)_(27841151 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 24,298,969 | 27,841,151 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137973 | GRCh37: NC_000017.10:g.(?_27274843)_(30817038_?)del, GRCh38: NC_000017.11:g.(?_28947825)_(32490020_?)del, NCBI36: NC_000017.9:g.(?_24298969)_(27841151_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000143027.4, VCV000154960.2 | 1 |