A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983847



Internal ID18879362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60267190..60267256hg38UCSC Ensembl
Outerchr17:58344551..58344617hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125639
Supporting Variants
SamplesKWS2
Known GenesUSP32
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983847
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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