A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17738035



Internal ID161701
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 StatusS
Merged Variantsnsv5426655
Supporting Variants
Samples
Known GenesCETN2, NSDHL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17738035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000832466


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