A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690938



Internal ID21717259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:90007858..90007858hg38UCSC Ensembl
chr1:90473417..90473417hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174124
Samples
Known GenesZNF326
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)nsv5690938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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