nsv3919728
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,652,031
- Description:GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)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: 42885 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 42414 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 10915 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919728 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 120,970,558 | 133,622,588 |
| nsv3919728 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 122,730,071 | 135,436,092 |
| nsv3919728 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 122,720,061 | 135,286,082 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145925 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139344.6, VCV000150499.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145925 | Submitted genomic | NC_000010.11:g.(?_ 120970558)_(133622 588_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 120,970,558 | 133,622,588 |
| nssv15145925 | Submitted genomic | NC_000010.10:g.(?_ 122730071)_(135436 092_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,730,071 | 135,436,092 |
| nssv15145925 | Submitted genomic | NC_000010.9:g.(?_1 22720061)_(1352860 82_?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 122,720,061 | 135,286,082 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145925 | GRCh37: NC_000010.10:g.(?_122730071)_(135436092_?)del, GRCh38: NC_000010.11:g.(?_120970558)_(133622588_?)del, NCBI36: NC_000010.9:g.(?_122720061)_(135286082_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139344.6, VCV000150499.2 | 1 |