A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206145



Internal ID21653654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207581736..207581736hg38UCSC Ensembl
chr2:208446460..208446460hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5691827
Supporting Variants
Samples
Known GenesCREB1
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)nssv17206145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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