A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695413



Internal ID21721734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23193826..23193826hg38UCSC Ensembl
chr16:23205147..23205147hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214940, nssv17199306
Samples
Known GenesSCNN1G
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)nsv5695413
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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