A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520888



Internal ID15101495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14139619..14146446hg38UCSC Ensembl
Innerchr16:14233476..14240303hg19UCSC Ensembl
Innerchr16:14140977..14147804hg18UCSC Ensembl
Innerchr16:14140977..14147804hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg386828
hg196828
hg186828
hg176828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681215, nssv683976, nssv677021
Samples
Known GenesMKL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520888
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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