A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752530



Internal ID20528390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118784088..118784088hg38UCSC Ensembl
chrX:117918051..117918051hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263944
Samples
Known GenesIL13RA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752530
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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