A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998283



Internal ID18811133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3901975..4208400hg38UCSC Ensembl
Innerchr4:3903702..4210127hg19UCSC Ensembl
Innerchr4:3873500..4261028hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38306426
hg19306426
hg18387529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5085n100
Supporting Variantsnssv3738133
Samples
Known GenesFAM86EP, OTOP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998283
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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