A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710711



Internal ID21737032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90966451..90966451hg38UCSC Ensembl
chr12:91360228..91360228hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226616, nssv17193248
Samples
Known GenesEPYC
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)nsv5710711
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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