A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392381



Internal ID22288590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27905893..27905893hg38UCSC Ensembl
chr1:28232404..28232404hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523526
Supporting Variants
SamplesNA19240
Known GenesRPA2
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)nssv14392381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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