nsv5381341
- 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:10,766,573
- Description:GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) 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: 25586 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 25619 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381341 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 171,143,062 | 181,909,634 |
| nsv5381341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,999,572 | 182,774,361 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867378 | copy number loss | Multiple | Multiple | 3-4 finger syndactyly; 3-4 finger syndactyly; Abnormal facial shape; Abnormal facial shape | Pathogenic | ClinVar | RCV001352646.1, VCV001047877.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867378 | Remapped | Good | NC_000002.12:g.(?_ 171143062)_(181909 634_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 171,143,062 | 181,909,634 |
| nssv16867378 | Submitted genomic | NC_000002.11:g.(?_ 171999572)_(182774 361_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,999,572 | 182,774,361 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867378 | GRCh37: NC_000002.11:g.(?_171999572)_(182774361_?)del | copy number loss | de novo | 3-4 finger syndactyly; 3-4 finger syndactyly; Abnormal facial shape; Abnormal facial shape | Pathogenic | ClinVar | RCV001352646.1, VCV001047877.1 |