A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520323



Internal ID22389731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73690969..73690969hg38UCSC Ensembl
chr15:73983310..73983310hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445145, nssv14418112
SamplesHG00733, HG00514
Known GenesCD276
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)nsv3520323
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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