A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522610



Internal ID22392032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53744882..53744882hg38UCSC Ensembl
chr6:53609680..53609680hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398865, nssv14426897, nssv14459795
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3522610
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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