A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524142



Internal ID22393571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56024228..56024228hg38UCSC Ensembl
chr5:55320056..55320056hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455449
SamplesHG00733
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)nsv3524142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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