A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414386



Internal ID193669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:47358851..47365926hg38UCSC Ensembl
chrX:47218250..47225325hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg387076
hg197076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736789
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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