A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3020n100



Internal ID20154636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75499761..75549110hg38UCSC Ensembl
chr16:75533659..75583008hg19UCSC Ensembl
chr16:74091160..74140509hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3849350
hg1949350
hg1849350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057506, nsv1055697, nsv1060637, nsv1062535, nsv1065709
Samples
Known GenesCHST5, TMEM231
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3020n100
Frequency
Sample Size29084
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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