A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1925n100



Internal ID20153541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63298943..63400959hg38UCSC Ensembl
chr14:63765661..63867677hg19UCSC Ensembl
chr14:62835414..62937430hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38102017
hg19102017
hg18102017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053882, nsv1049638, nsv1041108, nsv1050897, nsv1054848, nsv1036375, nsv1044094, nsv1039158, nsv1049419, nsv1045700
Samples
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1925n100
Frequency
Sample Size29084
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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