A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1868n100



Internal ID20153484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35041579..35287111hg38UCSC Ensembl
chr14:35510785..35756317hg19UCSC Ensembl
chr14:34580536..34826068hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38245533
hg19245533
hg18245533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1051274, nsv1046992, nsv1044515
Samples
Known GenesFAM177A1, KIAA0391, PPP2R3C, PSMA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1868n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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