A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430411



Internal ID209221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:7787495..7919472hg38UCSC Ensembl
chrX:7755536..7887513hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38131978
hg19131978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739133
Samples
Known GenesPNPLA4, VCX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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