A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440253



Internal ID22236819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32031875..32031875hg38UCSC Ensembl
chr10:32320803..32320803hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524022
Supporting Variants
SamplesHG00733
Known GenesKIF5B
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)nssv14440253
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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