A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523243



Internal ID22392669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358345..78358345hg38UCSC Ensembl
chr5:77654169..77654169hg19UCSC Ensembl
Cytoband5q14.1
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 Variantsnssv14426279
SamplesHG00514
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)nsv3523243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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