A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17442274



Internal ID22500144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139144334..139144489hg38UCSC Ensembl
chrX:138226496..138226651hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5877768
Supporting Variants
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17442274
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012


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