A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556746



Internal ID329874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:20156302..20156353hg38UCSC Ensembl
chrX:20174420..20174471hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739553
Samples
Known GenesRPS6KA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556746
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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