nsv3924565
- 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:1,419,752
- Description:GRCh38/hg38 17q11.2(chr17:30666018-32085769)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: 4418 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 4419 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 931 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924565 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 30,666,018 | 32,085,769 |
| nsv3924565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 28,993,036 | 30,412,788 |
| nsv3924565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 26,017,162 | 27,436,901 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138625 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141687.5, VCV000153222.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138625 | Submitted genomic | NC_000017.11:g.(?_ 30666018)_(3208576 9_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 30,666,018 | 32,085,769 |
| nssv15138625 | Submitted genomic | NC_000017.10:g.(?_ 28993036)_(3041278 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 28,993,036 | 30,412,788 |
| nssv15138625 | Submitted genomic | NC_000017.9:g.(?_2 6017162)_(27436901 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 26,017,162 | 27,436,901 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138625 | GRCh37: NC_000017.10:g.(?_28993036)_(30412788_?)del, GRCh38: NC_000017.11:g.(?_30666018)_(32085769_?)del, NCBI36: NC_000017.9:g.(?_26017162)_(27436901_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000141687.5, VCV000153222.2 | 1 |