A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562882



Internal ID22431624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851335..26851335hg38UCSC Ensembl
chr2:27074203..27074203hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288973, nssv14288974, nssv14292055
SamplesNA19238, NA19239, NA19240
Known GenesDPYSL5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562882
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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