nsv4348764
- 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:25,363,180
- Description:GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) 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: 72423 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 71961 SVs from 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4348764 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 108,262,412 | 133,625,591 |
| nsv4348764 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 110,022,170 | 135,439,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605860 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767665.1, VCV000625657.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605860 | Remapped | Good | NC_000010.11:g.(?_ 108262412)_(133625 591_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 108,262,412 | 133,625,591 |
| nssv15605860 | Submitted genomic | NC_000010.10:g.(?_ 110022170)_(135439 095_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 110,022,170 | 135,439,095 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605860 | GRCh37: NC_000010.10:g.(?_110022170)_(135439095_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767665.1, VCV000625657.1 |