A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709688



Internal ID21736009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14227967..14227967hg38UCSC Ensembl
chr16:14321824..14321824hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197699
Samples
Known GenesMKL2
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)nsv5709688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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