A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566187



Internal ID16353596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105290148..105314367hg38UCSC Ensembl
Innerchr14:105756485..105780704hg19UCSC Ensembl
Innerchr14:104827530..104851749hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3824220
hg1924220
hg1824220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834767
Samples
Known GenesBRF1, PACS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566187
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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