A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419814



Internal ID22157122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57553219..57553219hg38UCSC Ensembl
chr18:55220451..55220451hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524668
Supporting Variants
SamplesHG00514
Known GenesFECH
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)nssv14419814
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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