A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963950



Internal ID18878807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:54480910..54480993hg38UCSC Ensembl
Outerchr20:53097449..53097532hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129662
Supporting Variants
SamplesKWS1
Known GenesDOK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963950
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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