A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184982



Internal ID21632491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93150259..93150259hg38UCSC Ensembl
chr8:94162488..94162488hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694909
Supporting Variants
Samples
Known GenesC8orf87
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)nssv17184982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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