A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464399



Internal ID22216816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137679085..137679085hg38UCSC Ensembl
chr5:137014774..137014774hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386049
hg196049
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3558140
Supporting Variants
SamplesHG00733
Known GenesKLHL3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14464399
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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