A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179747



Internal ID21627256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137209962..137209962hg38UCSC Ensembl
chr6:137531099..137531099hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693917
Supporting Variants
Samples
Known GenesIFNGR1
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)nssv17179747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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