A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179609



Internal ID21627118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112096701..112096701hg38UCSC Ensembl
chr6:112417904..112417904hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677735
Supporting Variants
Samples
Known GenesFAM229B
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)nssv17179609
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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