A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14393725



Internal ID22286085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411652..5411652hg38UCSC Ensembl
chr18:5411651..5411651hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523509
Supporting Variants
SamplesNA19240
Known GenesEPB41L3
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)nssv14393725
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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