A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3292135



Internal ID22387967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44928813..44928900hg38UCSC Ensembl
chr21:46348728..46348815hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461663
SamplesHG00733
Known GenesITGB2, ITGB2-AS1
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)nsv3292135
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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