A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17199650



Internal ID21647159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58557766..58557766hg38UCSC Ensembl
chr18:56224998..56224998hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708198
Supporting Variants
Samples
Known GenesALPK2
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)nssv17199650
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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