A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045760



Internal ID18788291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92030812..92090267hg38UCSC Ensembl
Innerchr14:92497156..92556611hg19UCSC Ensembl
Innerchr14:91566909..91626364hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3859456
hg1959456
hg1859456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3532584
Samples
Known GenesATXN3, TRIP11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045760
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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