A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14380699



Internal ID22290994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14841725..14841725hg38UCSC Ensembl
chr11:14863271..14863271hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557714
Supporting Variants
SamplesNA19240
Known GenesPDE3B
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)nssv14380699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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