A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523701



Internal ID22393129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124922700..124922700hg38UCSC Ensembl
chr3:124641547..124641547hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423981, nssv14452122, nssv14398255
SamplesNA19240, HG00733, HG00514
Known GenesMUC13
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523701
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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