A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878376



Internal ID22653341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24470806..24595189hg38UCSC Ensembl
chrX:24488923..24613306hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38124384
hg19124384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17469272
Samples
Known GenesPCYT1B, PDK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878376
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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