nsv3911783
- 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:14,158,983
- Description:GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)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: 40895 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 40815 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 10828 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911783 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 7,428,770 | 21,587,752 |
| nsv3911783 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 7,470,732 | 21,876,681 |
| nsv3911783 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 7,510,738 | 21,916,687 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161547 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137307.6, VCV000148232.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161547 | Submitted genomic | NC_000010.11:g.(?_ 7428770)_(21587752 _?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 7,428,770 | 21,587,752 |
| nssv15161547 | Submitted genomic | NC_000010.10:g.(?_ 7470732)_(21876681 _?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 7,470,732 | 21,876,681 |
| nssv15161547 | Submitted genomic | NC_000010.9:g.(?_7 510738)_(21916687_ ?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 7,510,738 | 21,916,687 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161547 | GRCh37: NC_000010.10:g.(?_7470732)_(21876681_?)del, GRCh38: NC_000010.11:g.(?_7428770)_(21587752_?)del, NCBI36: NC_000010.9:g.(?_7510738)_(21916687_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137307.6, VCV000148232.2 | 1 |