A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218986



Internal ID22364149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:39884439..39884535hg38UCSC Ensembl
chr20:38513081..38513177hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5270n152
Supporting Variantsnssv14300759, nssv14300758, nssv14300761, nssv14300760
SamplesNA19238, NA19239, HG00731, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218986
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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