A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17195689



Internal ID21643198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102750453..102750453hg38UCSC Ensembl
chr13:103402803..103402803hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704713
Supporting Variants
Samples
Known GenesCCDC168
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)nssv17195689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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