A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14460687



Internal ID22240615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143630227..143630227hg38UCSC Ensembl
chr6:143951364..143951364hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523277
Supporting Variants
SamplesHG00733
Known GenesPHACTR2
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)nssv14460687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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