nsv3912429
- 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:13,929,671
- Description:GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)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: 36605 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 36605 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 8961 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912429 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 80,879,777 | 94,809,447 |
| nsv3912429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 81,800,931 | 95,730,598 |
| nsv3912429 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 82,019,955 | 95,949,621 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148029 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134977.5, VCV000145649.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148029 | Submitted genomic | NC_000004.12:g.(?_ 80879777)_(9480944 7_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 80,879,777 | 94,809,447 |
| nssv15148029 | Submitted genomic | NC_000004.11:g.(?_ 81800931)_(9573059 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 81,800,931 | 95,730,598 |
| nssv15148029 | Submitted genomic | NC_000004.10:g.(?_ 82019955)_(9594962 1_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 82,019,955 | 95,949,621 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148029 | GRCh37: NC_000004.11:g.(?_81800931)_(95730598_?)del, GRCh38: NC_000004.12:g.(?_80879777)_(94809447_?)del, NCBI36: NC_000004.10:g.(?_82019955)_(95949621_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134977.5, VCV000145649.2 | 1 |