A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948314



Internal ID32912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17783642..17783704hg38UCSC Ensembl
chr4:17785265..17785327hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442842
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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