A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14449796



Internal ID22245059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218476407..218476407hg38UCSC Ensembl
chr2:219341130..219341130hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521655
Supporting Variants
SamplesHG00733
Known GenesUSP37
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)nssv14449796
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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