nsv3916206
- 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:1,004,154
- Description:GRCh38/hg38 19q13.32(chr19:45595873-46600026)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: 3713 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 3713 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 937 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916206 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 45,595,873 | 46,600,026 |
| nsv3916206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,099,131 | 47,103,283 |
| nsv3916206 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 50,790,971 | 51,795,123 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132275 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050710.6, VCV000057097.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132275 | Submitted genomic | NC_000019.10:g.(?_ 45595873)_(4660002 6_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 45,595,873 | 46,600,026 |
| nssv15132275 | Submitted genomic | NC_000019.9:g.(?_4 6099131)_(47103283 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,099,131 | 47,103,283 |
| nssv15132275 | Submitted genomic | NC_000019.8:g.(?_5 0790971)_(51795123 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 50,790,971 | 51,795,123 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132275 | GRCh37: NC_000019.9:g.(?_46099131)_(47103283_?)del, GRCh38: NC_000019.10:g.(?_45595873)_(46600026_?)del, NCBI36: NC_000019.8:g.(?_50790971)_(51795123_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050710.6, VCV000057097.1 | 1 |