A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740765



Internal ID164431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74435497..74435550hg38UCSC Ensembl
chrX:73655332..73655385hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5417247
Supporting Variants
Samples
Known GenesSLC16A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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