A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283773



Internal ID22382126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79392098..79392168hg38UCSC Ensembl
chr13:79966233..79966303hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2341n152
Supporting Variantsnssv14459310, nssv14427906
SamplesHG00733, HG00514
Known GenesRBM26
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)nsv3283773
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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