A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201501



Internal ID21649010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36119603..36119603hg38UCSC Ensembl
chr18:33699566..33699566hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704279
Supporting Variants
Samples
Known GenesSLC39A6
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)nssv17201501
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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