A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395560



Internal ID22296662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62166667..62166667hg38UCSC Ensembl
chr20:60741723..60741723hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524134
Supporting Variants
SamplesNA19240
Known GenesSS18L1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395560
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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