A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv974190



Internal ID15921460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132626804..132975557hg38UCSC Ensembl
Innerchr3:132345648..132694401hg19UCSC Ensembl
Innerchr3:133828338..134177091hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38348754
hg19348754
hg18348754
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv591798
Supporting Variants
Samples
Known GenesACAD11, NPHP3, NPHP3-ACAD11, NPHP3-AS1, UBA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv974190
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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