A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564793



Internal ID16352202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47262835..47287267hg38UCSC Ensembl
Innerchr14:47732038..47756470hg19UCSC Ensembl
Innerchr14:46801788..46826220hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3824433
hg1924433
hg1824433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148615
SamplesHGDP00468
Known GenesMDGA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564793
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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