A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343555



Internal ID22255695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142241763..142242389hg38UCSC Ensembl
chr8:143323124..143323750hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38627
hg19627
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228755
Supporting Variants
SamplesNA19238
Known GenesTSNARE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343555
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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