A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399856



Internal ID22291657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131996994..131996994hg38UCSC Ensembl
chr5:131332687..131332687hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520745
Supporting Variants
SamplesNA19240
Known GenesACSL6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399856
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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