A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555926



Internal ID22424759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134138420..134138420hg38UCSC Ensembl
chr11:134008315..134008315hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377582
SamplesNA19240
Known GenesJAM3
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)nsv3555926
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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