A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1867n100



Internal ID20153483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34788252..35025497hg38UCSC Ensembl
chr14:35257458..35494703hg19UCSC Ensembl
chr14:34327209..34564454hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38237246
hg19237246
hg18237246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053722, nsv1045939
Samples
Known GenesBAZ1A, IGBP1P1, SRP54
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1867n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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