A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523584



Internal ID22393012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51509246..51509246hg38UCSC Ensembl
chr1:51974918..51974918hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381065
SamplesNA19240
Known GenesEPS15
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)nsv3523584
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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