A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420782



Internal ID199875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134589524..134590091hg38UCSC Ensembl
chrX:133723554..133724121hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742441
Samples
Known GenesPLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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