A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562200



Internal ID335159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115015250..115015301hg38UCSC Ensembl
chrX:114249813..114249864hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17742119
Samples
Known GenesIL13RA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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