A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523225



Internal ID22392651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433460..55433460hg38UCSC Ensembl
chr5:54729288..54729288hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462022, nssv14399789
SamplesNA19240, HG00733
Known GenesPPAP2A
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)nsv3523225
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer