A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950067



Internal ID34065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53944353..53948048hg38UCSC Ensembl
chr4:54810520..54814215hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383696
hg193696
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457732
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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