A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523298



Internal ID22392724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30362906..30362906hg38UCSC Ensembl
chr8:30220422..30220422hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14428414, nssv14402269
SamplesNA19240, HG00514
Known Genes
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)nsv3523298
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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