A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210672



Internal ID21658181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:88090579..88090579hg38UCSC Ensembl
chr3:88139729..88139729hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692647
Supporting Variants
Samples
Known GenesCGGBP1
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)nssv17210672
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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