A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3531114



Internal ID18829395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69475410..69509977hg38UCSC Ensembl
Innerchr14:69942127..69976694hg19UCSC Ensembl
Innerchr14:69011880..69046447hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3834568
hg1934568
hg1834568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050258
Supporting Variants
Samples
Known GenesPLEKHD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3531114
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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