A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418930



Internal ID198084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24835346..24835414hg38UCSC Ensembl
chrX:24853463..24853531hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739754
Samples
Known GenesPOLA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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