A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341563



Internal ID22282714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58703418..58703418hg38UCSC Ensembl
chr8:59615977..59615977hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565294
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341563
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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