A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521179



Internal ID22390592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228824171..228824171hg38UCSC Ensembl
chr1:228959918..228959918hg19UCSC Ensembl
Cytoband1q42.13
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 Variantsnssv14387286, nssv14438950
SamplesNA19240, HG00733
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)nsv3521179
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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