A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201563



Internal ID21649072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54934019..54934019hg38UCSC Ensembl
chr18:52601250..52601250hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713911
Supporting Variants
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)nssv17201563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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