A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421094



Internal ID200182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:138785381..138815381hg38UCSC Ensembl
chrX:137867543..137897543hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg3830001
hg1930001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742617
Samples
Known GenesFGF13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421094
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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