nsv4729375
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,317,177
- Description:GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)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: 44771 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 44775 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729375 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 168,187,207 | 183,504,383 |
| nsv4729375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 169,108,358 | 184,425,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255838 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263167.1, VCV000983279.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255838 | Remapped | Perfect | NC_000004.12:g.(16 8187207_?)_(?_1835 04383)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 168,187,207 | 183,504,383 |
| nssv16255838 | Submitted genomic | NC_000004.11:g.(16 9108358_?)_(?_1844 25536)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 169,108,358 | 184,425,536 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255838 | GRCh37: NC_000004.11:g.(169108358_?)_(?_184425536)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001263167.1, VCV000983279.1 | 1 |