A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17742635



Internal ID166301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:139072088..139123541hg38UCSC Ensembl
chrX:138154250..138205703hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg3851454
hg1951454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426173
Supporting Variants
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17742635
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00270552


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