nsv5381780
- 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:12,887,835
- Description:GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) 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: 30517 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 30510 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381780 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 87,847,870 | 100,735,704 |
| nsv5381780 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 87,477,185 | 100,333,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867381 | copy number gain | Multiple | Multiple | Isolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequence; Transverse facial cleft; Transverse facial cleft | Pathogenic | ClinVar | RCV001352649.1, VCV001047880.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867381 | Remapped | Good | NC_000007.14:g.(?_ 87847870)_(1007357 04_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 87,847,870 | 100,735,704 |
| nssv16867381 | Submitted genomic | NC_000007.13:g.(?_ 87477185)_(1003333 27_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 87,477,185 | 100,333,327 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867381 | GRCh37: NC_000007.13:g.(?_87477185)_(100333327_?)dup | copy number gain | maternal | Isolated Pierre Robin syndrome; PIERRE ROBIN SYNDROME; PRBNS; Pierre-Robin sequence; Robin sequence; Transverse facial cleft; Transverse facial cleft | Pathogenic | ClinVar | RCV001352649.1, VCV001047880.1 |