A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955130



Internal ID22730353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:84080387..84080387hg38UCSC Ensembl
chrX:83335395..83335395hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17465686
Samples
Known GenesRPS6KA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955130
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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