nsv6290893
- 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:47,833,865
- Description:GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 AND Mosaic supernumerary isodicentric chromosome 10
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 137895 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 133629 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290893 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 89,715 | 47,923,579 |
| nsv6290893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 135,655 | 47,688,677 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956061 | copy number gain | Multiple | Multiple | See cases | not provided | ClinVar | RCV001825164.1, VCV001339781.1 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956061 | Remapped | Good | NC_000010.11:g.(?_ 89715)_(47923579_? )dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 89,715 | 47,923,579 |
| nssv17956061 | Submitted genomic | NC_000010.10:g.(?_ 135655)_(47688677_ ?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 135,655 | 47,688,677 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956061 | GRCh37: NC_000010.10:g.(?_135655)_(47688677_?)dup | copy number gain | unknown | See cases | not provided | ClinVar | RCV001825164.1, VCV001339781.1 | 4 |