A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200156



Internal ID22349647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84428593..84430640hg38UCSC Ensembl
chr5:83724411..83726458hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382048
hg192048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7418n152
Supporting Variantsnssv14322765, nssv14322767, nssv14322764, nssv14322766, nssv14322768
SamplesNA19239, HG00731, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200156
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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