A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699387



Internal ID21725708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:37048674..37048674hg38UCSC Ensembl
chr13:37622811..37622811hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229225
Samples
Known GenesSUPT20H
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)nsv5699387
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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