A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564771



Internal ID16352180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47139100..47191173hg38UCSC Ensembl
Innerchr14:47608303..47660376hg19UCSC Ensembl
Innerchr14:46678053..46730126hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3852074
hg1952074
hg1852074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827704
Samples
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564771
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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