nsv3916835
- 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:12,836,702
- Description:GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)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: 33575 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 33575 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 8418 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916835 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 79,575,748 | 92,412,449 |
| nsv3916835 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,496,902 | 93,333,600 |
| nsv3916835 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 80,715,926 | 93,552,623 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146513 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053297.4, VCV000059455.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146513 | Submitted genomic | NC_000004.12:g.(?_ 79575748)_(9241244 9_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 79,575,748 | 92,412,449 |
| nssv15146513 | Submitted genomic | NC_000004.11:g.(?_ 80496902)_(9333360 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,496,902 | 93,333,600 |
| nssv15146513 | Submitted genomic | NC_000004.10:g.(?_ 80715926)_(9355262 3_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 80,715,926 | 93,552,623 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146513 | GRCh37: NC_000004.11:g.(?_80496902)_(93333600_?)del, GRCh38: NC_000004.12:g.(?_79575748)_(92412449_?)del, NCBI36: NC_000004.10:g.(?_80715926)_(93552623_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053297.4, VCV000059455.1 | 1 |