A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199306



Internal ID21646815
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 StatusS
Merged Variantsnsv5695413
Supporting Variants
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)nssv17199306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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