A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14413322



Internal ID22148612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233861919..233861919hg38UCSC Ensembl
chr1:233997665..233997665hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523484
Supporting Variants
SamplesHG00514
Known Genes
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)nssv14413322
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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