A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389288



Internal ID22293001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163344641..163344641hg38UCSC Ensembl
chr1:163314431..163314431hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524014
Supporting Variants
SamplesNA19240
Known GenesNUF2
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)nssv14389288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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