A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227798



Internal ID21675307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94466792..94466792hg38UCSC Ensembl
chr11:94199958..94199958hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713213
Supporting Variants
Samples
Known GenesMRE11A
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)nssv17227798
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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