A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181484



Internal ID20748524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44573101..44576400hg38UCSC Ensembl
chr13:45147237..45150536hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487599
Supporting Variants
Samples
Known GenesTSC22D1, TSC22D1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181484
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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