A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978245



Internal ID52889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178394800..178527324hg38UCSC Ensembl
chr5:177821801..177954325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38132525
hg19132525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471776
Supporting Variants
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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