A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17228792



Internal ID21676301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15306064..15306064hg38UCSC Ensembl
chr3:15347571..15347571hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679049
Supporting Variants
Samples
Known GenesSH3BP5
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)nssv17228792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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