A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712212



Internal ID21738533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33131499..33131499hg38UCSC Ensembl
chr15:33423700..33423700hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198035
Samples
Known GenesFMN1
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)nsv5712212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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