A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228864



Internal ID22370908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50768488..50771237hg38UCSC Ensembl
chr20:49385025..49387774hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382750
hg192750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299489, nssv14299488
SamplesNA19238, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228864
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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