A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3554800



Internal ID22423654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134408206..134408206hg38UCSC Ensembl
chr11:134278100..134278100hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443889, nssv14415540, nssv14381357
SamplesNA19240, HG00733, HG00514
Known GenesB3GAT1
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)nsv3554800
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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