A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702483



Internal ID21728804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123734774..123734774hg38UCSC Ensembl
chr11:123605482..123605482hg19UCSC Ensembl
Cytoband11q24.1
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 Variantsnssv17192022, nssv17229894
Samples
Known GenesZNF202
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)nsv5702483
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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