nsv5381135
- 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:4,746,638
- Description:GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) 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: 11926 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 11928 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 51,476,205 | 56,222,842 |
| nsv5381135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 51,941,877 | 56,688,514 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867373 | copy number loss | Multiple | Multiple | Abnormality of the kidney; Abnormality of the kidney; Transverse facial cleft; Transverse facial cleft | Pathogenic | ClinVar | RCV001352641.1, VCV001047872.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867373 | Remapped | Perfect | NC_000001.11:g.(?_ 51476205)_(5622284 2_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 51,476,205 | 56,222,842 |
| nssv16867373 | Submitted genomic | NC_000001.10:g.(?_ 51941877)_(5668851 4_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 51,941,877 | 56,688,514 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867373 | GRCh37: NC_000001.10:g.(?_51941877)_(56688514_?)del | copy number loss | de novo | Abnormality of the kidney; Abnormality of the kidney; Transverse facial cleft; Transverse facial cleft | Pathogenic | ClinVar | RCV001352641.1, VCV001047872.1 |