A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342343



Internal ID22283792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64086058..64104614hg38UCSC Ensembl
chr8:64998615..65017171hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3818557
hg1918557
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229565
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342343
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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