A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742637



Internal ID166303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139144334..139144491hg38UCSC Ensembl
chrX:138226496..138226653hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433087
Supporting Variants
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742637
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.043553


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