A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428762



Internal ID207620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:1301204..1346386hg38UCSC Ensembl
chrX:1420097..1465279hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3845183
hg1945183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv558n206
Supporting Variantsnssv17738788
Samples
Known GenesCSF2RA, IL3RA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428762
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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