A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14454405



Internal ID22249002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:139002765..139002765hg38UCSC Ensembl
chr6:139323902..139323902hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524404
Supporting Variants
SamplesHG00733
Known Genes
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)nssv14454405
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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