A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999993



Internal ID19159529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69619810..69649093hg38UCSC Ensembl
Innerchr4:70485528..70514811hg19UCSC Ensembl
Innerchr4:70520117..70549400hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3829284
hg1929284
hg1829284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5318n100
Supporting Variantsnssv3633058
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999993
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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