nsv5060032
- 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:4,183,080
- Description:GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1 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: 12256 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 11294 SVs from 133 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5060032 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | - | 45,931,517 | 50,114,596 |
| nsv5060032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,966,535 | - | 51,874,356 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16596271 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001281356.1, VCV000992645.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv16596271 | Remapped | Pass | NC_000010.11:g.(?_ 45931517)_(?_50114 596)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 45,931,517 | 50,114,596 |
| nssv16596271 | Submitted genomic | NC_000010.10:g.(46 966535_?)_(?_51874 356)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,966,535 | - | 51,874,356 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16596271 | GRCh37: NC_000010.10:g.(46966535_?)_(?_51874356)del | copy number loss | maternal | not provided | Likely pathogenic | ClinVar | RCV001281356.1, VCV000992645.1 | 1 |