nsv3920609
- 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:3,133,759
- Description:
GRCh38/hg38 4p16.3(chr4:72555-3206313)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: 14636 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 14493 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 3671 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920609 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 72,555 | 3,206,313 |
| nsv3920609 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 72,447 | 3,208,040 |
| nsv3920609 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 62,447 | 3,177,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121023 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051645.5, VCV000057905.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121023 | Submitted genomic | NC_000004.12:g.(?_ 72555)_(3206313_?) del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 72,555 | 3,206,313 |
| nssv15121023 | Submitted genomic | NC_000004.11:g.(?_ 72447)_(3208040_?) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 72,447 | 3,208,040 |
| nssv15121023 | Submitted genomic | NC_000004.10:g.(?_ 62447)_(3177838_?) del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 62,447 | 3,177,838 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121023 | GRCh37: NC_000004.11:g.(?_72447)_(3208040_?)del, GRCh38: NC_000004.12:g.(?_72555)_(3206313_?)del, NCBI36: NC_000004.10:g.(?_62447)_(3177838_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051645.5, VCV000057905.1 | 1 |