A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527251



Internal ID15107858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62934068..63602088hg38UCSC Ensembl
Innerchr14:63400786..64068806hg19UCSC Ensembl
Innerchr14:62470539..63138559hg18UCSC Ensembl
Innerchr14:62470539..63138559hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38668021
hg19668021
hg18668021
hg17668021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n21
Supporting Variantsnssv703653
Samples
Known GenesGPHB5, KCNH5, PPP2R5E, RHOJ, WDR89
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527251
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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