nsv4675795
- 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:8,400,701
- Description:GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)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: 22486 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 22493 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675795 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 53,830,190 | 62,230,890 |
| nsv4675795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 55,589,950 | 63,990,649 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208896 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006325.1, VCV000815348.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208896 | Remapped | Perfect | NC_000010.11:g.(?_ 53830190)_(6223089 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 53,830,190 | 62,230,890 |
| nssv16208896 | Submitted genomic | NC_000010.10:g.(?_ 55589950)_(6399064 9_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 55,589,950 | 63,990,649 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208896 | GRCh37: NC_000010.10:g.(?_55589950)_(63990649_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006325.1, VCV000815348.1 | 1 |