A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414673



Internal ID193944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:114272065..114272261hg38UCSC Ensembl
chrX:113515290..113515486hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742094
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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