nsv3894198
- 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:125,326
- Description:GRCh37/hg19 10p15.1(chr10:5018712-5144037)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: 519 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894198 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 4,976,520 | 5,101,845 |
| nsv3894198 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 5,018,712 | 5,144,037 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15157693 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000736999.2, VCV000600363.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15157693 | Remapped | Perfect | NC_000010.11:g.(?_ 4976520)_(5101845_ ?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 4,976,520 | 5,101,845 |
| nssv15157693 | Submitted genomic | NC_000010.10:g.(?_ 5018712)_(5144037_ ?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 5,018,712 | 5,144,037 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15157693 | GRCh37: NC_000010.10:g.(?_5018712)_(5144037_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000736999.2, VCV000600363.2 | 1 |