A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564182



Internal ID16004905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31641313..32115131hg38UCSC Ensembl
Innerchr14:32110519..32584337hg19UCSC Ensembl
Innerchr14:31180270..31654088hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38473819
hg19473819
hg18473819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825145
Samples
Known GenesARHGAP5, ARHGAP5-AS1, NUBPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564182
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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