A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524640



Internal ID22394075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183663407..183663407hg38UCSC Ensembl
chr1:183632542..183632542hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372881
SamplesNA19240
Known GenesRGL1
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)nsv3524640
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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