A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523869



Internal ID22393297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181078274..181078274hg38UCSC Ensembl
chr1:181047410..181047410hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14412910, nssv14440729
SamplesHG00733, HG00514
Known Genes
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)nsv3523869
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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