A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366223



Internal ID22267981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77995015..78005313hg38UCSC Ensembl
chr13:78569150..78579448hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3810299
hg1910299
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220715
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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