A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726267



Internal ID21752588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135744411..135744411hg38UCSC Ensembl
chr2:136501981..136501981hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243529, nssv17242970
Samples
Known GenesUBXN4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5726267
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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