nsv4350537
- 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:1,719,961
- Description:GRCh37/hg19 19p13.3(chr19:3076808-4796782) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 8283 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 8285 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350537 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 3,076,810 | 4,796,770 |
| nsv4350537 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 3,076,808 | 4,796,782 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606078 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767742.1, VCV000625734.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606078 | Remapped | Good | NC_000019.10:g.(?_ 3076810)_(4796770_ ?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 3,076,810 | 4,796,770 |
| nssv15606078 | Submitted genomic | NC_000019.9:g.(?_3 076808)_(4796782_? )del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 3,076,808 | 4,796,782 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606078 | GRCh37: NC_000019.9:g.(?_3076808)_(4796782_?)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV000767742.1, VCV000625734.1 |