A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966131



Internal ID44738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66769394..66772498hg38UCSC Ensembl
chr5:66065222..66068326hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg383105
hg193105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470074
Supporting Variants
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966131
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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