A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564726



Internal ID16352135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45233155..45442378hg38UCSC Ensembl
Innerchr14:45702358..45911581hg19UCSC Ensembl
Innerchr14:44772108..44981331hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38209224
hg19209224
hg18209224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827672
Samples
Known GenesMIS18BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564726
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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