A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566240



Internal ID16353649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105474277..105475136hg38UCSC Ensembl
Innerchr14:105940614..105941473hg19UCSC Ensembl
Innerchr14:105011659..105012518hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38860
hg19860
hg18860
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3992n54
Supporting Variantsnssv834887, nssv834884, nssv834886, nssv834888, nssv834885
Samples
Known GenesCRIP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566240
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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