A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427479



Internal ID206383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134585049..134590009hg38UCSC Ensembl
chrX:133719079..133724039hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg384961
hg194961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742440
Samples
Known GenesPLAC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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