A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14422797



Internal ID22161501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34363017..34363017hg38UCSC Ensembl
chr22:34759007..34759007hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520434
Supporting Variants
SamplesHG00514
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)nssv14422797
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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