A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518129



Internal ID15445422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82154568..82194471hg38UCSC Ensembl
Innerchr16:82188173..82228076hg19UCSC Ensembl
Innerchr16:80745674..80785577hg18UCSC Ensembl
Innerchr16:80745674..80785577hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3839904
hg1939904
hg1839904
hg1739904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695547
Samples
Known GenesMPHOSPH6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518129
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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