A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2968n100



Internal ID22789055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:35323345..35514321hg38UCSC Ensembl
chr16:34557716..34748692hg19UCSC Ensembl
chr16:34415217..34606193hg18UCSC Ensembl
Cytoband16p11.1
Allele length
AssemblyAllele length
hg38190977
hg19190977
hg18190977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067027, nsv1065033, nsv1059753, nsv1056775, nsv1061554, nsv1057244, nsv1064281, nsv1062772
Samples
Known GenesLOC100130700, LOC146481, LOC283914
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2968n100
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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