A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375363



Internal ID22311398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13198202..13198280hg38UCSC Ensembl
chr16:13292059..13292137hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225806
Supporting Variants
SamplesNA19240
Known GenesSHISA9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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