A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7120n100



Internal ID22793207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17755337..17855914hg38UCSC Ensembl
chr8:17612846..17713423hg19UCSC Ensembl
chr8:17657126..17757703hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38100578
hg19100578
hg18100578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1018735, nsv1028673, nsv1017084, nsv1019297, nsv1024711
Samples
Known GenesMTUS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7120n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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