A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215207



Internal ID21662716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113013648..113013648hg38UCSC Ensembl
chr3:112732495..112732495hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5689321
Supporting Variants
Samples
Known GenesC3orf17
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)nssv17215207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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