A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17195553



Internal ID21643062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:71768553..71768553hg38UCSC Ensembl
chr13:72342685..72342685hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5707483
Supporting Variants
Samples
Known GenesDACH1
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)nssv17195553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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