A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220115



Internal ID21667624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71223776..71223776hg38UCSC Ensembl
chr10:72983533..72983533hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706548
Supporting Variants
Samples
Known GenesUNC5B
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)nssv17220115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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