A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187651



Internal ID21635160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13326961..13326961hg38UCSC Ensembl
chr10:13368961..13368961hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700155
Supporting Variants
Samples
Known GenesSEPHS1
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)nssv17187651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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