A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522504



Internal ID22391926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24635007..24635007hg38UCSC Ensembl
chr1:24961498..24961498hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14376900
SamplesNA19240
Known Genes
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)nsv3522504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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