A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521027



Internal ID22390439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44110999..44110999hg38UCSC Ensembl
chr19:44615152..44615152hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393989
SamplesNA19240
Known GenesLOC100379224
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)nsv3521027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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