A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449805



Internal ID22221496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220071658..220071658hg38UCSC Ensembl
chr2:220936379..220936379hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522758
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)nssv14449805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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