A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966151



Internal ID44749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67002119..67002256hg38UCSC Ensembl
chr5:66297947..66298084hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454710
Supporting Variants
Samples
Known GenesMAST4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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