A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14415376



Internal ID22150909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19618907..19618907hg38UCSC Ensembl
chr11:19640453..19640453hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558146
Supporting Variants
SamplesHG00514
Known GenesNAV2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14415376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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