A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367585



Internal ID22199609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44569397..44577492hg38UCSC Ensembl
chr13:45143533..45151628hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg388096
hg198096
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222695
Supporting Variants
SamplesHG00732
Known GenesTSC22D1, TSC22D1-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367585
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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