A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181834



Internal ID20748874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36217901..36221900hg38UCSC Ensembl
chr13:36792038..36796037hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384000
hg194000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6490381
Supporting Variants
Samples
Known GenesCCDC169-SOHLH2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181834
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00546


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