A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368885



Internal ID22275228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40808647..40808820hg38UCSC Ensembl
chr13:41382783..41382956hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217064
Supporting Variants
SamplesNA19239
Known GenesSLC25A15, TPTE2P5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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