A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565709



Internal ID16353118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99172933..99175858hg38UCSC Ensembl
Innerchr14:99639270..99642195hg19UCSC Ensembl
Innerchr14:98709023..98711948hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382926
hg192926
hg182926
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv832938, nssv832937, nssv832939
Samples
Known GenesBCL11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565709
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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