A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290431



Internal ID22269681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21022088..21022088hg38UCSC Ensembl
chr18:18602049..18602049hg19UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560997
Supporting Variants
SamplesNA19239
Known GenesROCK1
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)nssv14290431
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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