A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727620



Internal ID21753941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105875637..105875637hg38UCSC Ensembl
chr7:105516083..105516083hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237416
Samples
Known GenesATXN7L1
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)nsv5727620
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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