A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1956n100



Internal ID20153572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92056253..92104511hg38UCSC Ensembl
chr14:92522597..92570855hg19UCSC Ensembl
chr14:91592350..91640608hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3848259
hg1948259
hg1848259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035320, nsv1040658, nsv1049301, nsv1049634
Samples
Known GenesATXN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1956n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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