A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677737



Internal ID21704058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112020429..112020429hg38UCSC Ensembl
chr2:112778006..112778006hg19UCSC Ensembl
Cytoband2q13
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 Variantsnssv17208644
Samples
Known GenesMERTK
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)nsv5677737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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