A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413944



Internal ID193234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71648542..71714542hg38UCSC Ensembl
chrX:70868392..70934392hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3866001
hg1966001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740659
Samples
Known GenesBCYRN1, CXorf49, CXorf49B, LINC00891, LOC100132741
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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