A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693021



Internal ID21719342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203166396..203166396hg38UCSC Ensembl
chr2:204031119..204031119hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209274, nssv17228336
Samples
Known GenesNBEAL1
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)nsv5693021
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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