A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722786



Internal ID21749107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34981830..34981830hg38UCSC Ensembl
chr18:32561794..32561794hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17253042
Samples
Known GenesMAPRE2
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)nsv5722786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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