A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14414655



Internal ID22150099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101728712..101728712hg38UCSC Ensembl
chr10:103488469..103488469hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522241
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)nssv14414655
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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