A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209134



Internal ID21656643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134781058..134781058hg38UCSC Ensembl
chr2:135538628..135538628hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681454
Supporting Variants
Samples
Known Genes
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)nssv17209134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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