A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016823



Internal ID18759358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76535212..76620080hg38UCSC Ensembl
Innerchr5:75831037..75915905hg19UCSC Ensembl
Innerchr5:75866793..75951661hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3884869
hg1984869
hg1884869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5702n100
Supporting Variantsnssv3639021
Samples
Known GenesF2RL2, IQGAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016823
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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