A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720543



Internal ID21746864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7679355..7679355hg38UCSC Ensembl
chr18:7679353..7679353hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249058, nssv17236033
Samples
Known GenesPTPRM
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)nsv5720543
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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