A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564772



Internal ID16352181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47181718..47246418hg38UCSC Ensembl
Innerchr14:47650921..47715621hg19UCSC Ensembl
Innerchr14:46720671..46785371hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3864701
hg1964701
hg1864701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148613
Samples1798860114_A
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564772
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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