A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563518



Internal ID22432254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123096136..123096136hg38UCSC Ensembl
chr5:122431831..122431831hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323926, nssv14323929, nssv14323927, nssv14323923, nssv14323931, nssv14323928, nssv14323924, nssv14323925, nssv14323930
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPRDM6
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563518
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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