A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430942



Internal ID209735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119852395..119852471hg38UCSC Ensembl
chrX:118986358..118986434hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737348
Samples
Known GenesUPF3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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