A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007838



Internal ID18750369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68564406..68674295hg38UCSC Ensembl
Innerchr4:69430124..69540013hg19UCSC Ensembl
Innerchr4:69112719..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38109890
hg19109890
hg18109890
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5279n100
Supporting Variantsnssv3628831, nssv3628830
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007838
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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