A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433513



Internal ID212225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:127263767..127265675hg38UCSC Ensembl
chrX:126397750..126399658hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381909
hg191909
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742306
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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