A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522348



Internal ID22391769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40040513..40040513hg38UCSC Ensembl
chr17:38196766..38196766hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14446781
SamplesHG00733
Known GenesMED24
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522348
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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