A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199617



Internal ID21647126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41961564..41961564hg38UCSC Ensembl
chr18:39541529..39541529hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700569
Supporting Variants
Samples
Known GenesPIK3C3
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)nssv17199617
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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