A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421740



Internal ID200802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73086542..73114771hg38UCSC Ensembl
chrX:72306381..72334610hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3828230
hg1928230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740712
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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