A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391246



Internal ID22143322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54378372..54378372hg38UCSC Ensembl
chr16:54412284..54412284hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560753
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391246
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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