A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17201489



Internal ID21648998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35475906..35475906hg38UCSC Ensembl
chr18:33055870..33055870hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710161
Supporting Variants
Samples
Known GenesINO80C
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)nssv17201489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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