A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3290832



Internal ID22387778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44912782..44912922hg38UCSC Ensembl
chr21:46332697..46332837hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455751, nssv14433638
SamplesHG00733, HG00514
Known GenesITGB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3290832
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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