A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520768



Internal ID22390177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169993603..169993603hg38UCSC Ensembl
chr1:169962744..169962744hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440688, nssv14412869, nssv14387796
SamplesNA19240, HG00733, HG00514
Known GenesKIFAP3
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)nsv3520768
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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