A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591797



Internal ID16032520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132554869..132565301hg38UCSC Ensembl
Innerchr3:132273713..132284145hg19UCSC Ensembl
Innerchr3:133756403..133766835hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3810433
hg1910433
hg1810433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv974189
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591797
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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