A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727571



Internal ID21753892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55483283..55483283hg38UCSC Ensembl
chr4:56349450..56349450hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381822
hg191822
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242307
Samples
Known GenesCLOCK
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)nsv5727571
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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