A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727467



Internal ID21753788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42631937..42631937hg38UCSC Ensembl
chr5:42632039..42632039hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251831, nssv17238204
Samples
Known GenesGHR
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)nsv5727467
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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