A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522828



Internal ID22392252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97156980..97156980hg38UCSC Ensembl
chr12:97550758..97550758hg19UCSC Ensembl
Cytoband12q23.1
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 Variantsnssv14443637, nssv14391218
SamplesNA19240, HG00733
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)nsv3522828
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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