A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712771



Internal ID21739092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29815109..29815109hg38UCSC Ensembl
chr16:29826430..29826430hg19UCSC Ensembl
Cytoband16p11.2
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 Variantsnssv17199013, nssv17232814
Samples
Known GenesPRRT2
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)nsv5712771
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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