A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5251n100



Internal ID22791338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68418861..68674295hg38UCSC Ensembl
chr4:69284579..69540013hg19UCSC Ensembl
chr4:68967174..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38255435
hg19255435
hg18255435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007070, nsv998674, nsv1013336, nsv1005786, nsv1011727, nsv1012899, nsv1003200, nsv1006399, nsv1002954, nsv1013388, nsv1014998, nsv1007567, nsv1013420, nsv1005586, nsv1013083
Samples
Known GenesTMPRSS11E, UGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5251n100
Frequency
Sample Size11257
Observed Gain86
Observed Loss0
Observed Complex0
Frequencyn/a


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