A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222695



Internal ID22366690
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14367585, nssv14367584
SamplesHG00731, HG00732
Known GenesTSC22D1, TSC22D1-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222695
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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