A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532928



Internal ID22402249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17419504..17419565hg38UCSC Ensembl
chr22:17898551..17898612hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5663n152
Supporting Variantsnssv14302974, nssv14302975, nssv14302973, nssv14302977, nssv14302976
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532928
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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