A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1155907



Internal ID22086412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:199314247..199317834hg38UCSC Ensembl
Outerchr2:199311915..199321192hg38UCSC Ensembl
Innerchr2:200178970..200182557hg19UCSC Ensembl
Outerchr2:200176638..200185915hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389278
hg199278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4016139
Samples
Known GenesSATB2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1155907
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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