A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187649



Internal ID21635158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13184729..13184729hg38UCSC Ensembl
chr10:13226729..13226729hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709320
Supporting Variants
Samples
Known GenesMCM10
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)nssv17187649
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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