A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417392



Internal ID196590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115570162..115595894hg38UCSC Ensembl
chrX:114804478..114830206hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3825733
hg1925729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742140
Samples
Known GenesPLS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417392
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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