A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682899



Internal ID21709220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28436308..28436308hg38UCSC Ensembl
chr7:28475927..28475927hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180995, nssv17225994
Samples
Known GenesCREB5
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)nsv5682899
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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