A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724485



Internal ID21750806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18895213..18895213hg38UCSC Ensembl
chr16:18906535..18906535hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245499, nssv17245338
Samples
Known GenesSMG1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724485
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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