nsv3924759
- 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:1,404,175
- Description:
GRCh38/hg38 20p13(chr20:89939-1494113)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: 5141 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 5149 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 1336 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924759 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 89,939 | 1,494,113 |
| nsv3924759 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 70,580 | 1,474,759 |
| nsv3924759 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 18,580 | 1,422,759 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133978 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135804.4, VCV000146529.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133978 | Submitted genomic | NC_000020.11:g.(?_ 89939)_(1494113_?) del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 89,939 | 1,494,113 |
| nssv15133978 | Submitted genomic | NC_000020.10:g.(?_ 70580)_(1474759_?) del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 70,580 | 1,474,759 |
| nssv15133978 | Submitted genomic | NC_000020.9:g.(?_1 8580)_(1422759_?)d el | NCBI36 (hg18) | NC_000020.9 | Chr20 | 18,580 | 1,422,759 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133978 | GRCh37: NC_000020.10:g.(?_70580)_(1474759_?)del, GRCh38: NC_000020.11:g.(?_89939)_(1494113_?)del, NCBI36: NC_000020.9:g.(?_18580)_(1422759_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135804.4, VCV000146529.2 | 1 |