A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17198629



Internal ID21646138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:25204568..25204568hg38UCSC Ensembl
chr18:22784532..22784532hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701045
Supporting Variants
Samples
Known GenesZNF521
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)nssv17198629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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