A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456741



Internal ID234802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177021924..177069675hg38UCSC Ensembl
chr5:176448925..176496676hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3847752
hg1947752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16978208
Samples
Known GenesZNF346
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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