A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519968



Internal ID22389376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72609864..72609864hg38UCSC Ensembl
chr11:72320908..72320908hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14415453, nssv14442655
SamplesHG00733, HG00514
Known GenesPDE2A
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)nsv3519968
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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