A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433060



Internal ID211786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:97511542..97579771hg38UCSC Ensembl
chrX:96766541..96834770hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg3868230
hg1968230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737101
Samples
Known GenesDIAPH2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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