A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522944



Internal ID22392368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89826807..89826807hg38UCSC Ensembl
chr9:92528254..92528254hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14403726
SamplesNA19240
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)nsv3522944
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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