A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209205



Internal ID21656714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171861209..171861209hg38UCSC Ensembl
chr2:172717719..172717719hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687371
Supporting Variants
Samples
Known GenesSLC25A12
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)nssv17209205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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