A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418624



Internal ID197787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71708542..71772771hg38UCSC Ensembl
chrX:70928392..70992621hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3864230
hg1964230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740663
Samples
Known GenesBCYRN1, CXorf49, CXorf49B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418624
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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