A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367494



Internal ID22271303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27935550..27937093hg38UCSC Ensembl
chr13:28509687..28511230hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221156
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367494
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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