A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100681



Internal ID21280696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:59930630..59942126hg38UCSC Ensembl
Innerchr20:58505685..58517181hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3811497
hg1911497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113910
Supporting Variants
Samplessample300
Known GenesFAM217B, PPP1R3D, SYCP2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100681
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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