A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707145



Internal ID21733466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:66431180..66431180hg38UCSC Ensembl
chr16:66465083..66465083hg19UCSC Ensembl
Cytoband16q21
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 Variantsnssv17199383
Samples
Known GenesBEAN1
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)nsv5707145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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