nsv3972371
- 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:12,370,367
- Description:GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)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: 36415 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 28768 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3972371 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 58,301,883 |
| nsv3972371 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,390,457 | 60,061,643 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223154 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000762699.3, VCV000624468.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223154 | Remapped | Pass | NC_000010.11:g.(?_ 45931517)_(5830188 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,931,517 | 58,301,883 |
| nssv15223154 | Submitted genomic | NC_000010.10:g.(?_ 49390457)_(6006164 3_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,390,457 | 60,061,643 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223154 | GRCh37: NC_000010.10:g.(?_49390457)_(60061643_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV000762699.3, VCV000624468.3 | 1 |