A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719211



Internal ID21745532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7573618..7573618hg38UCSC Ensembl
chr5:7573731..7573731hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241767
Samples
Known GenesADCY2
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)nsv5719211
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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