A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595183



Internal ID16382592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113551828..113591057hg38UCSC Ensembl
Innerchr4:114472984..114512213hg19UCSC Ensembl
Innerchr4:114692433..114731662hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3839230
hg1939230
hg1839230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1004464
Samples
Known GenesCAMK2D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595183
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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