A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14444147



Internal ID22227222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32132250..32132250hg38UCSC Ensembl
chr13:32706387..32706387hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521036
Supporting Variants
SamplesHG00733
Known GenesFRY
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)nssv14444147
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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