A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038345



Internal ID18780876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73957079..74050155hg38UCSC Ensembl
Innerchr14:74423782..74516858hg19UCSC Ensembl
Innerchr14:73493535..73586611hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3893077
hg1993077
hg1893077
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1936n100
Supporting Variantsnssv3531159
Samples
Known GenesCCDC176, 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)nsv1038345
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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