A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418424



Internal ID197592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1256237..1351607hg38UCSC Ensembl
chrX:1375130..1470500hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3895371
hg1995371
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557n206
Supporting Variantsnssv17738761
Samples
Known GenesCSF2RA, IL3RA, MIR3690, MIR3690-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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