A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17740775



Internal ID164441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74786821..74786882hg38UCSC Ensembl
chrX:74006656..74006717hg19UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427996
Supporting Variants
Samples
Known GenesKIAA2022
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17740775
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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