A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2975n100



Internal ID20154591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46429858..46768065hg38UCSC Ensembl
chr16:46463770..46801977hg19UCSC Ensembl
chr16:45021271..45359478hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38338208
hg19338208
hg18338208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060734, nsv1064289
Samples
Known GenesANKRD26P1, MYLK3, ORC6, SHCBP1, VPS35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2975n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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