A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198948



Internal ID21646457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28346390..28346390hg38UCSC Ensembl
chr17:26673416..26673416hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705213
Supporting Variants
Samples
Known GenesTNFAIP1
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)nssv17198948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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