A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045075



Internal ID18787606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73957079..74072003hg38UCSC Ensembl
Innerchr14:74423782..74538706hg19UCSC Ensembl
Innerchr14:73493535..73608459hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38114925
hg19114925
hg18114925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1936n100
Supporting Variantsnssv3531160
Samples
Known GenesALDH6A1, CCDC176, COQ6, ENTPD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045075
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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