A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520477



Internal ID22389885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174613140..174613140hg38UCSC Ensembl
chr4:175534291..175534291hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14452582, nssv14398908
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)nsv3520477
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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