A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14390593



Internal ID22270505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22844980..22845477hg38UCSC Ensembl
chr16:22856301..22856798hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226968
Supporting Variants
SamplesNA19239
Known GenesHS3ST2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14390593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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