A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713206



Internal ID21739527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55454162..55454162hg38UCSC Ensembl
chr8:56366722..56366722hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223856, nssv17183523
Samples
Known GenesSBF1P1, XKR4
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)nsv5713206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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