A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010381



Internal ID18752912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48699508..49307825hg38UCSC Ensembl
Innerchr4:48701525..49309842hg19UCSC Ensembl
Innerchr4:48396282..49004599hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38608318
hg19608318
hg18608318
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625139
Samples
Known GenesCWH43, FRYL, OCIAD1, OCIAD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010381
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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