nsv6634396
- 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:285,905
- Description:GRCh37/hg19 4p16.2(chr4:5147197-5432416)x1 AND Syndromic anorectal malformation
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 977 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 977 SVs from 75 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6634396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 5,144,788 | 5,145,470 | 5,430,689 | 5,430,692 |
| nsv6634396 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 5,146,515 | 5,147,197 | 5,432,416 | 5,432,419 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326293 | copy number loss | Multiple | Multiple | Syndromic anorectal malformation | association | ClinVar | RCV002286614.1, VCV001707634.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18326293 | Remapped | Perfect | NC_000004.12:g.(51 44788_5145470)_(54 30689_5430692)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 5,144,788 | 5,145,470 | 5,430,689 | 5,430,692 |
| nssv18326293 | Submitted genomic | NC_000004.11:g.(51 46515_5147197)_(54 32416_5432419)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 5,146,515 | 5,147,197 | 5,432,416 | 5,432,419 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326293 | GRCh37: NC_000004.11:g.(5146515_5147197)_(5432416_5432419)del | copy number loss | paternal | Syndromic anorectal malformation | association | ClinVar | RCV002286614.1, VCV001707634.1 | 1 |