A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189720



Internal ID21637229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26317695..26317695hg38UCSC Ensembl
chr1:26644186..26644186hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681909
Supporting Variants
Samples
Known GenesUBXN11
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)nssv17189720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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