A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440688



Internal ID22230734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169993603..169993603hg38UCSC Ensembl
chr1:169962744..169962744hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520768
Supporting Variants
SamplesHG00733
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)nssv14440688
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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