A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522569



Internal ID15449862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22690985..22790490hg38UCSC Ensembl
Innerchr14:23160194..23259699hg19UCSC Ensembl
Innerchr14:22230034..22329539hg18UCSC Ensembl
Innerchr14:22230034..22329539hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3899506
hg1999506
hg1899506
hg1799506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127n21
Supporting Variantsnssv705953
Samples
Known GenesOXA1L, SLC7A7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522569
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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