A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553652



Internal ID22422529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33880254..33880254hg38UCSC Ensembl
chr11:33901800..33901800hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416303
SamplesHG00514
Known GenesLMO2
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)nsv3553652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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