A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133225



Internal ID18901814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89566206..89566290hg38UCSC Ensembl
Outerchr16:89632614..89632698hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988109
SamplesKWS1
Known GenesRPL13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133225
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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