A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418340



Internal ID197513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:136910498..136910569hg38UCSC Ensembl
chrX:135992657..135992728hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742556
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418340
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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