A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14403064



Internal ID22297159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:88659607..88659607hg38UCSC Ensembl
chr9:91274522..91274522hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg386095
hg196095
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523860
Supporting Variants
SamplesNA19240
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)nssv14403064
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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