A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414540



Internal ID193819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46495921..46497374hg38UCSC Ensembl
chrX:46355356..46356809hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736754
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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