A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191678



Internal ID22342349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168377673..168379423hg38UCSC Ensembl
chr4:169298824..169300574hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14318710, nssv14318714, nssv14318715, nssv14318717, nssv14318712, nssv14318711, nssv14318713, nssv14318709, nssv14318716
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDDX60L
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191678
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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