A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367971



Internal ID22284346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30411546..30412796hg38UCSC Ensembl
chr13:30985683..30986933hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222995
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367971
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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