A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401022



Internal ID180399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177066574..177066625hg38UCSC Ensembl
chr5:176493575..176493626hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735471
Samples
Known GenesZNF346
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401022
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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