A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368471



Internal ID22259805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51348686..51348848hg38UCSC Ensembl
chr13:51922822..51922984hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529758
Supporting Variants
SamplesNA19238
Known GenesSERPINE3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368471
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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