A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14448896



Internal ID22222422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72017601..72017601hg38UCSC Ensembl
chr2:72244731..72244731hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524690
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)nssv14448896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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