A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378148



Internal ID22293512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126138173..126138173hg38UCSC Ensembl
chr11:126008068..126008068hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3544625
Supporting Variants
SamplesNA19240
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)nssv14378148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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