nsv4769372
- 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:1,661,219
- Description:GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)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: 3386 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 3394 SVs from 100 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769372 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,183,895 | 49,845,113 |
| nsv4769372 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,391,938 | 51,053,159 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16297041 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001270635.4, VCV000988905.4 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297041 | Remapped | Perfect | NC_000010.11:g.481 83895_49845113dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,183,895 | 49,845,113 |
| nssv16297041 | Submitted genomic | NC_000010.10:g.493 91938_51053159dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,391,938 | 51,053,159 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16297041 | GRCh37: NC_000010.10:g.49391938_51053159dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV001270635.4, VCV000988905.4 | 3 |