A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992797



Internal ID19242761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:54042588..54046488hg38UCSC Ensembl
Outerchr16:54076500..54080400hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141292
Supporting Variants
SamplesKWS2
Known GenesFTO
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992797
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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