A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523105



Internal ID22392530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128035258..128035258hg38UCSC Ensembl
chr10:129833522..129833522hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372846
SamplesNA19240
Known GenesPTPRE
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)nsv3523105
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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