A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695096



Internal ID21721417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83111558..83111558hg38UCSC Ensembl
chr15:83780310..83780310hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197131
Samples
Known GenesTM6SF1
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)nsv5695096
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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