nsv6315368
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:10,335,757
- Description:GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 AND musculoskeletal system issues
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 26873 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 26873 SVs from 123 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 36,053,481 | 46,389,237 |
| nsv6315368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 36,053,583 | 46,389,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977064 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002284293.1, VCV001705919.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977064 | Remapped | Perfect | NC_000005.10:g.(36 053481_?)_(?_46389 237)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 36,053,481 | 46,389,237 |
| nssv17977064 | Submitted genomic | NC_000005.9:g.(360 53583_?)_(?_463893 39)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 36,053,583 | 46,389,339 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977064 | GRCh37: NC_000005.9:g.(36053583_?)_(?_46389339)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002284293.1, VCV001705919.1 | 3 |