A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366545



Internal ID22224179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21161875..21167987hg38UCSC Ensembl
chr13:21736014..21742126hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg386113
hg196113
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528513
Supporting Variants
SamplesHG00733
Known GenesSKA3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366545
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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