A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721697



Internal ID21748018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28744366..28744366hg38UCSC Ensembl
chr7:28783983..28783983hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233375
Samples
Known GenesCREB5
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5721697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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