A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14462022



Internal ID22214593
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 StatusS
Merged Variantsnsv3523225
Supporting Variants
SamplesHG00733
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)nssv14462022
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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