A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223531



Internal ID21671040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134895682..134895682hg38UCSC Ensembl
chr5:134231372..134231372hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679839
Supporting Variants
Samples
Known GenesTXNDC15
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)nssv17223531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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