A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14322033



Internal ID22260655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90702017..90702017hg38UCSC Ensembl
chr5:89997834..89997834hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3564042
Supporting Variants
SamplesNA19238
Known GenesGPR98
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)nssv14322033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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