A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182045



Internal ID20749085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:103038501..103050000hg38UCSC Ensembl
chr13:103690851..103702350hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg3811500
hg1911500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6485070
Supporting Variants
Samples
Known GenesSLC10A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182045
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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