nsv3924876
- 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:107,686
- Description:GRCh38/hg38 4q21.21(chr4:80772092-80879777)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: 404 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924876 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 80,772,092 | 80,879,777 |
| nsv3924876 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 81,693,246 | 81,800,931 |
| nsv3924876 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 81,912,270 | 82,019,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122883 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000140990.3, VCV000152449.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122883 | Submitted genomic | NC_000004.12:g.(?_ 80772092)_(8087977 7_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 80,772,092 | 80,879,777 |
| nssv15122883 | Submitted genomic | NC_000004.11:g.(?_ 81693246)_(8180093 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 81,693,246 | 81,800,931 |
| nssv15122883 | Submitted genomic | NC_000004.10:g.(?_ 81912270)_(8201995 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 81,912,270 | 82,019,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122883 | GRCh37: NC_000004.11:g.(?_81693246)_(81800931_?)del, GRCh38: NC_000004.12:g.(?_80772092)_(80879777_?)del, NCBI36: NC_000004.10:g.(?_81912270)_(82019955_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000140990.3, VCV000152449.1 | 1 |