A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524325



Internal ID22393757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:63596339..63596339hg38UCSC Ensembl
chr10:65356099..65356099hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442397
SamplesHG00733
Known GenesREEP3
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)nsv3524325
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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