A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695420



Internal ID21721741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32792215..32792215hg38UCSC Ensembl
chr11:32813761..32813761hg19UCSC Ensembl
Cytoband11p13
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 Variantsnssv17191073
Samples
Known GenesCCDC73
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)nsv5695420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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