A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521572



Internal ID22390988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109715291..109715291hg38UCSC Ensembl
chr5:109050992..109050992hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14454880
SamplesHG00733
Known GenesMAN2A1
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)nsv3521572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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