A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521935



Internal ID22391351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42658518..42658518hg38UCSC Ensembl
chr6:42626256..42626256hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400401
SamplesNA19240
Known GenesUBR2
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)nsv3521935
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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