A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429386



Internal ID208235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13931000..14557488hg38UCSC Ensembl
chrX:13949119..14575610hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38626489
hg19626492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739346
Samples
Known GenesGEMIN8, GLRA2, GPM6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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