A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215590



Internal ID21663099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59361199..59361199hg38UCSC Ensembl
chr10:61120959..61120959hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706273
Supporting Variants
Samples
Known GenesFAM13C
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)nssv17215590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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