A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742640



Internal ID166306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139179053..139194381hg38UCSC Ensembl
chrX:138261215..138276543hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3815329
hg1915329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420508
Supporting Variants
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742640
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00270552


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