A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696031



Internal ID21722352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54923272..54923272hg38UCSC Ensembl
chr18:52590503..52590503hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231535
Samples
Known GenesCCDC68
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)nsv5696031
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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