A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421665



Internal ID200729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130437291..130464319hg38UCSC Ensembl
chrX:129571265..129598293hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg3827029
hg1927029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17737576
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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