A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979783



Internal ID53902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179853549..179869825hg38UCSC Ensembl
chr5:179280549..179296825hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3816277
hg1916277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456945
Supporting Variants
Samples
Known GenesC5orf45, TBC1D9B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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