A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471806



Internal ID249533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176557496..176561928hg38UCSC Ensembl
chr5:175984497..175988929hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384433
hg194433
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977248
Samples
Known GenesCDHR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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