A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14335768



Internal ID22210801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67016252..67016252hg38UCSC Ensembl
chr7:66481239..66481239hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565116
Supporting Variants
SamplesHG00732
Known GenesTYW1
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)nssv14335768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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