A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565285



Internal ID16352694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:80356250..80359337hg38UCSC Ensembl
Innerchr14:80822593..80825680hg19UCSC Ensembl
Innerchr14:79892346..79895433hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383088
hg193088
hg183088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv830045
Samples
Known GenesDIO2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565285
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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