A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519078



Internal ID15099685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67589167..67591159hg38UCSC Ensembl
Innerchr14:68055884..68057876hg19UCSC Ensembl
Innerchr14:67125637..67127629hg18UCSC Ensembl
Innerchr14:67125637..67127629hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381993
hg191993
hg181993
hg171993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138n21
Supporting Variantsnssv694304
Samples
Known GenesPIGH, PLEKHH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519078
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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