A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3543464



Internal ID22412520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69482483..69482483hg38UCSC Ensembl
chr11:69297251..69297251hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415423, nssv14442284
SamplesHG00733, HG00514
Known Genes
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)nsv3543464
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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