nsv6634409
- 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:39,435,729
- Description:GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 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: 117224 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 117496 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6634409 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | - | 10,001 | 39,445,729 | - |
| nsv6634409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 1 | 48,827 | 39,154,913 | 40,036,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326406 | copy number gain | Multiple | Multiple | Syndromic anorectal malformation | Likely pathogenic | ClinVar | RCV002286608.1, VCV001707628.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18326406 | Remapped | Good | NC_000009.12:g.(?_ 10001)_(39445729_? )dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | - | 10,001 | 39,445,729 | - |
| nssv18326406 | Submitted genomic | NC_000009.11:g.(1_ 48827)_(39154913_4 0036525)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 1 | 48,827 | 39,154,913 | 40,036,525 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326406 | GRCh37: NC_000009.11:g.(1_48827)_(39154913_40036525)dup | copy number gain | unknown | Syndromic anorectal malformation | Likely pathogenic | ClinVar | RCV002286608.1, VCV001707628.1 | 3 |