A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675343



Internal ID21701664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44628472..44628472hg38UCSC Ensembl
chr7:44668071..44668071hg19UCSC Ensembl
Cytoband7p13
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 Variantsnssv17181036, nssv17218857
Samples
Known GenesOGDH
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)nsv5675343
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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