A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711396



Internal ID21737717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26856644..26856644hg38UCSC Ensembl
chr18:24436608..24436608hg19UCSC Ensembl
Cytoband18q11.2
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 Variantsnssv17218460, nssv17200104
Samples
Known GenesAQP4
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)nsv5711396
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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