A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564965



Internal ID22433689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99317541..99317541hg38UCSC Ensembl
chr6:99765417..99765417hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14328181, nssv14328182
SamplesNA19238, NA19240
Known GenesFAXC
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564965
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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