A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564193



Internal ID16004916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34258921..34530982hg38UCSC Ensembl
Innerchr14:34728127..35000188hg19UCSC Ensembl
Innerchr14:33797878..34069939hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38272062
hg19272062
hg18272062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3608n54
Supporting Variantsnssv825154
Samples
Known GenesEAPP, SPTSSA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564193
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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