A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541788



Internal ID316345
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 StatusM
Merged Variants
Supporting Variantsnssv17741117
Samples
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541788
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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