A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341428



Internal ID22316829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640323..9643446hg38UCSC Ensembl
chr8:9497833..9500956hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383124
hg193124
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221718
Supporting Variants
SamplesNA19240
Known GenesTNKS
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341428
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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