A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195458



Internal ID20762498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:103031462..103049964hg38UCSC Ensembl
chr13:103683812..103702314hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3818503
hg1918503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487919
Supporting Variants
Samples
Known GenesSLC10A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195458
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00191


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