A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129662



Internal ID18901350
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 StatusM
Merged Variantsdgv2264n106
Supporting Variantsnssv3963950
SamplesKWS1
Known GenesDOK5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129662
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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