A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228870



Internal ID22370912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50609940..50610066hg38UCSC Ensembl
chr20:49226477..49226603hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5299n152
Supporting Variantsnssv14299475, nssv14299474
SamplesNA19238, NA19240
Known GenesFAM65C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228870
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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