A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723829



Internal ID21750150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87849214..87849214hg38UCSC Ensembl
chr7:87478529..87478529hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381507
hg191507
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236326
Samples
Known GenesSLC25A40
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)nsv5723829
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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