A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14368535



Internal ID22182868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52893262..52893262hg38UCSC Ensembl
chr13:53467397..53467397hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560283
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14368535
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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