A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564040



Internal ID16004763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23126512..23163297hg38UCSC Ensembl
Innerchr14:23595721..23632506hg19UCSC Ensembl
Innerchr14:22665561..22702346hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3836786
hg1936786
hg1836786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149474
SamplesHGDP01023
Known GenesSLC7A8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564040
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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