A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702131



Internal ID21728452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88506974..88506974hg38UCSC Ensembl
chr11:88240142..88240142hg19UCSC Ensembl
Cytoband11q14.2
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 Variantsnssv17191294, nssv17221167
Samples
Known GenesGRM5, GRM5-AS1
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)nsv5702131
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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