A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17229734



Internal ID21677243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:75994751..75994751hg38UCSC Ensembl
chr10:77754509..77754509hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694367
Supporting Variants
Samples
Known GenesC10orf11
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)nssv17229734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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