A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380905



Internal ID22290794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118330881..118330881hg38UCSC Ensembl
chr11:118201596..118201596hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3550957
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)nssv14380905
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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