A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521171



Internal ID22390584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87713075..87713075hg38UCSC Ensembl
chr4:88634227..88634227hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424909
SamplesHG00514
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)nsv3521171
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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