A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523355



Internal ID22392782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291670..160291670hg38UCSC Ensembl
chr1:160261460..160261460hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390553
SamplesNA19240
Known GenesCOPA
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)nsv3523355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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