A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3068n100



Internal ID22789155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:150721..222292hg38UCSC Ensembl
chr17:514..72083hg19UCSC Ensembl
chr17:514..72083hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3871572
hg1971570
hg1871570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059181, nsv1062902, nsv1064602, nsv1066054
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3068n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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