nsv3898922
- 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:52,058
- Description:GRCh37/hg19 10q23.1(chr10:84134206-84186263)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: 282 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3898922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 82,374,450 | 82,426,507 |
nsv3898922 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 84,134,206 | 84,186,263 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15157751 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737213.2, VCV000600577.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15157751 | Remapped | Perfect | NC_000010.11:g.(?_ 82374450)_(8242650 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 82,374,450 | 82,426,507 |
nssv15157751 | Submitted genomic | NC_000010.10:g.(?_ 84134206)_(8418626 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 84,134,206 | 84,186,263 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15157751 | GRCh37: NC_000010.10:g.(?_84134206)_(84186263_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000737213.2, VCV000600577.2 | 1 |