A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251365



Internal ID21698874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67812103..67812103hg38UCSC Ensembl
chr10:69571861..69571861hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716257
Supporting Variants
Samples
Known GenesDNAJC12
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17251365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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