A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520139



Internal ID22389547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167889442..167889442hg38UCSC Ensembl
chr1:167858680..167858680hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14391938
SamplesNA19240
Known GenesADCY10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520139
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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