A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2795n100



Internal ID20154411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20325210..20411678hg38UCSC Ensembl
chr16:20336532..20423000hg19UCSC Ensembl
chr16:20244033..20330501hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3886469
hg1986469
hg1886469
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052975, nsv1035146
Samples
Known GenesACSM5, GP2, PDILT, UMOD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2795n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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