nsv3905569
- 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:6,624,081
- Description:GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 16549 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 16553 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905569 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 55,828,168 | 62,452,248 |
| nsv3905569 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 57,587,928 | 64,212,007 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151233 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000512057.2, VCV000442208.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151233 | Remapped | Perfect | NC_000010.11:g.(?_ 55828168)_(6245224 8_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 55,828,168 | 62,452,248 |
| nssv15151233 | Submitted genomic | NC_000010.10:g.(?_ 57587928)_(6421200 7_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 57,587,928 | 64,212,007 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151233 | GRCh37: NC_000010.10:g.(?_57587928)_(64212007_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000512057.2, VCV000442208.2 | 1 |