A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950191



Internal ID34147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62475020..62493628hg38UCSC Ensembl
chr4:63340738..63359346hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3818609
hg1918609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454912
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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