A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686334



Internal ID21712655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225445377..225445377hg38UCSC Ensembl
chr2:226310093..226310093hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209488, nssv17220633
Samples
Known GenesNYAP2
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)nsv5686334
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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