A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522334



Internal ID22391755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99410376..99410376hg38UCSC Ensembl
chr7:99007999..99007999hg19UCSC Ensembl
Cytoband7q22.1
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 Variantsnssv14427934
SamplesHG00514
Known GenesBUD31
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)nsv3522334
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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