A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14419798



Internal ID22157099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478830..55478830hg38UCSC Ensembl
chr18:53146061..53146061hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524552
Supporting Variants
SamplesHG00514
Known GenesTCF4
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)nssv14419798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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