A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426655



Internal ID205583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152816883..152848271hg38UCSC Ensembl
chrX:151985415..152016815hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3831389
hg1931401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17738035
Samples
Known GenesCETN2, NSDHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426655
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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