A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367991



Internal ID22146928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30838521..30839964hg38UCSC Ensembl
chr13:31412658..31414101hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381444
hg191444
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222372
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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