A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712691



Internal ID21739012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:96260509..96260509hg38UCSC Ensembl
chr10:98020266..98020266hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188313
Samples
Known GenesBLNK
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)nsv5712691
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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