A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948943



Internal ID33315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54800257..54811153hg38UCSC Ensembl
chr4:55666423..55677319hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3810897
hg1910897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470329
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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