A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520572



Internal ID22389980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76578872..76578872hg38UCSC Ensembl
chr5:75874697..75874697hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425158
SamplesHG00514
Known GenesIQGAP2
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)nsv3520572
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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