A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703637



Internal ID21729958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:115776607..115776607hg38UCSC Ensembl
chr10:117536118..117536118hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188906, nssv17232168
Samples
Known GenesATRNL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703637
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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