A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979478



Internal ID19228233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:56388093..56388154hg38UCSC Ensembl
Outerchr20:54963149..54963210hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117286
Supporting Variants
SamplesKWS2
Known GenesAURKA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979478
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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