A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475745



Internal ID21133298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45441770..45760591hg38UCSC Ensembl
chr13:46015905..46334726hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38318822
hg19318822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190079
Samples
Known GenesCOG3, FAM194B, SPERT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475745
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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