nsv3923733
- 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:20,428,419
- Description:GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)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: 52487 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 52494 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 13080 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923733 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 80,427,023 | 100,855,441 |
| nsv3923733 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 81,348,177 | 101,776,598 |
| nsv3923733 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 81,567,201 | 101,995,621 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145857 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137269.4, VCV000148194.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145857 | Submitted genomic | NC_000004.12:g.(?_ 80427023)_(1008554 41_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 80,427,023 | 100,855,441 |
| nssv15145857 | Submitted genomic | NC_000004.11:g.(?_ 81348177)_(1017765 98_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 81,348,177 | 101,776,598 |
| nssv15145857 | Submitted genomic | NC_000004.10:g.(?_ 81567201)_(1019956 21_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 81,567,201 | 101,995,621 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145857 | GRCh37: NC_000004.11:g.(?_81348177)_(101776598_?)del, GRCh38: NC_000004.12:g.(?_80427023)_(100855441_?)del, NCBI36: NC_000004.10:g.(?_81567201)_(101995621_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000137269.4, VCV000148194.2 | 1 |