A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700736



Internal ID21727057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68539223..68539223hg38UCSC Ensembl
chr12:68933003..68933003hg19UCSC Ensembl
Cytoband12q15
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 Variantsnssv17229855, nssv17193152
Samples
Known Genes
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)nsv5700736
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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