A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416273



Internal ID22151919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37215556..37215556hg38UCSC Ensembl
chr13:37789693..37789693hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520758
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)nssv14416273
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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