A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723052



Internal ID21749373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70750920..70750920hg38UCSC Ensembl
chr12:71144700..71144700hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383504
hg193504
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243829
Samples
Known GenesPTPRR
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)nsv5723052
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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