nsv6112765
- 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:17,134,147
- Description:GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 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: 54225 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 53756 SVs from 137 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112765 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 116,487,669 | 133,621,815 |
| nsv6112765 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 118,247,181 | 135,435,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17650010 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001537903.4, VCV001180521.4 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17650010 | Remapped | Good | NC_000010.11:g.116 487669_133621815du p | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 116,487,669 | 133,621,815 |
| nssv17650010 | Submitted genomic | NC_000010.10:g.118 247181_135435319du p | GRCh37 (hg19) | NC_000010.10 | Chr10 | 118,247,181 | 135,435,319 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17650010 | GRCh37: NC_000010.10:g.118247181_135435319dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV001537903.4, VCV001180521.4 | 3 |