A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429223



Internal ID208074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12915316..12915370hg38UCSC Ensembl
chrX:12933435..12933489hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739298
Samples
Known GenesTLR8, TLR8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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