A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951493



Internal ID35018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82974026..82975225hg38UCSC Ensembl
chr4:83895179..83896378hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469919
Supporting Variants
Samples
Known GenesLIN54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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