nsv3876630
- 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:988,840
- Description:Single allele AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2579 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2579 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876630 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 219,060,944 | 220,049,783 |
| nsv3876630 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 219,925,666 | 220,914,504 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15156677 | deletion | Multiple | Multiple | Bilateral cleft lip and palate; Bilateral cleft lip and palate; HEART, MALFORMATION OF; HEART, MALFORMATION OF; Heart Defects, Congenital; Heart, malformation of; POLYDACTYLY; Phocomelia; Phocomelia; Polydactyly; Polydactyly | Pathogenic | ClinVar | RCV000736029.2, VCV000549857.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156677 | Remapped | Perfect | NC_000002.12:g.219 060944_220049783de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 219,060,944 | 220,049,783 |
| nssv15156677 | Submitted genomic | NC_000002.11:g.219 925666_220914504de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 219,925,666 | 220,914,504 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15156677 | GRCh37: NC_000002.11:g.219925666_220914504del | deletion | de novo | Bilateral cleft lip and palate; Bilateral cleft lip and palate; HEART, MALFORMATION OF; HEART, MALFORMATION OF; Heart Defects, Congenital; Heart, malformation of; POLYDACTYLY; Phocomelia; Phocomelia; Polydactyly; Polydactyly | Pathogenic | ClinVar | RCV000736029.2, VCV000549857.2 |