A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520476



Internal ID22389884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150589714..150589714hg38UCSC Ensembl
chr6:150910850..150910850hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400744
SamplesNA19240
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)nsv3520476
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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