A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378488



Internal ID22318114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45710951..45710951hg38UCSC Ensembl
chr1:46176623..46176623hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg382395
hg192395
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523668
Supporting Variants
SamplesNA19240
Known GenesIPP
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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