nsv4716435
- 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:3,962,077
- Description:GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516) AND microdeletion 4p16.3p16.1
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13514 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 13587 SVs from 117 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716435 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 2,907,713 | 6,869,789 |
| nsv4716435 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 2,909,440 | 6,871,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16252200 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001255691.2, VCV000977788.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252200 | Remapped | Perfect | NC_000004.12:g.(?_ 2907713)_(6869789_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 2,907,713 | 6,869,789 |
| nssv16252200 | Submitted genomic | NC_000004.11:g.(?_ 2909440)_(6871516_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 2,909,440 | 6,871,516 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16252200 | GRCh37: NC_000004.11:g.(?_2909440)_(6871516_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV001255691.2, VCV000977788.2 |