A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385702



Internal ID22310259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122981099..122981099hg38UCSC Ensembl
chr11:122851807..122851807hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg381365
hg191365
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3551722
Supporting Variants
SamplesNA19240
Known GenesBSX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385702
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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