A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191858



Internal ID21639367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95853675..95853675hg38UCSC Ensembl
chr11:95586839..95586839hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709358
Supporting Variants
Samples
Known GenesMTMR2
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)nssv17191858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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