nsv3914771
- 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:19,282,895
- Description:GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)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: 63801 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 63659 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 16313 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914771 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 54,086 | 19,336,980 |
| nsv3914771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 100,026 | 19,625,909 |
| nsv3914771 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 90,026 | 19,665,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161813 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143703.6, VCV000155636.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161813 | Submitted genomic | NC_000010.11:g.(?_ 54086)_(19336980_? )del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 54,086 | 19,336,980 |
| nssv15161813 | Submitted genomic | NC_000010.10:g.(?_ 100026)_(19625909_ ?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 100,026 | 19,625,909 |
| nssv15161813 | Submitted genomic | NC_000010.9:g.(?_9 0026)_(19665915_?) del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 90,026 | 19,665,915 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161813 | GRCh37: NC_000010.10:g.(?_100026)_(19625909_?)del, GRCh38: NC_000010.11:g.(?_54086)_(19336980_?)del, NCBI36: NC_000010.9:g.(?_90026)_(19665915_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143703.6, VCV000155636.2 | 1 |