A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440129



Internal ID22236708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240060353..240060353hg38UCSC Ensembl
chr1:240223653..240223653hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519710
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440129
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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