A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728225



Internal ID21754546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133410102..133410102hg38UCSC Ensembl
chrX:132544130..132544130hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203504, nssv17214478
Samples
Known GenesGPC4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5728225
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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