A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187564



Internal ID21635073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:112051433..112051433hg38UCSC Ensembl
chr9:114813713..114813713hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700196
Supporting Variants
Samples
Known GenesMIR3134, SUSD1
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)nssv17187564
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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