A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715657



Internal ID21741978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42007338..42007338hg38UCSC Ensembl
chr7:42046937..42046937hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236259
Samples
Known GenesGLI3
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)nsv5715657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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