A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712288



Internal ID18663883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39188331..39301525hg38UCSC Ensembl
Innerchr14:39657535..39770729hg19UCSC Ensembl
Innerchr14:38727286..38840480hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38113195
hg19113195
hg18113195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053133
Supporting Variants
Samples
Known GenesCTAGE5, LOC100288846, MIA2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712288
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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