A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191257



Internal ID22341986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115841910..115842113hg38UCSC Ensembl
chr5:115177607..115177810hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321782, nssv14321783, nssv14321781
SamplesNA19238, NA19239, NA19240
Known GenesAP3S1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191257
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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