A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14450162



Internal ID22245372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161095805..161095805hg38UCSC Ensembl
chr2:161952316..161952316hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520613
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14450162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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