A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181635



Internal ID21629144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22729198..22729198hg38UCSC Ensembl
chr7:22768817..22768817hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679400
Supporting Variants
Samples
Known GenesIL6
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)nssv17181635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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