A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409814



Internal ID22323237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38340635..38341951hg38UCSC Ensembl
chr22:38736640..38737956hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3180703
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409814
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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