A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565006



Internal ID16005729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69572972..69574091hg38UCSC Ensembl
Innerchr14:70039689..70040808hg19UCSC Ensembl
Innerchr14:69109442..69110561hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381120
hg191120
hg181120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3744n54
Supporting Variantsnssv828824
Samples
Known GenesCCDC177
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565006
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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