A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741848



Internal ID165514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:106914987..106915057hg38UCSC Ensembl
chrX:106158217..106158287hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423374
Supporting Variants
Samples
Known GenesCLDN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741848
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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