A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1930n100



Internal ID22788017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69454164..69509977hg38UCSC Ensembl
chr14:69920881..69976694hg19UCSC Ensembl
chr14:68990634..69046447hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3855814
hg1955814
hg1855814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052107, nsv1048882, nsv1039192, nsv1039230
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1930n100
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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