A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226869



Internal ID22369530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6462475..6462574hg38UCSC Ensembl
chr20:6443122..6443221hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5167n152
Supporting Variantsnssv14297891, nssv14297889, nssv14297890
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226869
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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