A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042953



Internal ID19132172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62847873..62917542hg38UCSC Ensembl
Innerchr14:63314591..63384260hg19UCSC Ensembl
Innerchr14:62384344..62454013hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3869670
hg1969670
hg1869670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531056
Samples
Known GenesKCNH5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042953
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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