A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520528



Internal ID15101135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62934068..63690399hg38UCSC Ensembl
Innerchr14:63400786..64157117hg19UCSC Ensembl
Innerchr14:62470539..63226870hg18UCSC Ensembl
Innerchr14:62470539..63226870hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38756332
hg19756332
hg18756332
hg17756332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137n21
Supporting Variantsnssv697470
Samples
Known GenesGPHB5, KCNH5, PPP2R5E, RHOJ, SGPP1, WDR89
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520528
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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