A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723275



Internal ID21749596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41549071..41549071hg38UCSC Ensembl
chr4:41551088..41551088hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252150
Samples
Known GenesLIMCH1
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)nsv5723275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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