A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155317



Internal ID22085822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:50188029..50190472hg38UCSC Ensembl
Outerchr16:50183698..50196005hg38UCSC Ensembl
Innerchr16:50221940..50224383hg19UCSC Ensembl
Outerchr16:50217609..50229916hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3812308
hg1912308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4008651
Samples
Known GenesPAPD5
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155317
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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