A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17741117



Internal ID164783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080387..84080387hg38UCSC Ensembl
chrX:83335395..83335395hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg381379
hg191379
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541788
Supporting Variants
Samples
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17741117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.758207


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