A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524343



Internal ID22393776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:141449732..141449732hg38UCSC Ensembl
chr6:141770869..141770869hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467001, nssv14426141
SamplesHG00733, 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)nsv3524343
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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