A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209254



Internal ID21656763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200424060..200424060hg38UCSC Ensembl
chr2:201288783..201288783hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680201
Supporting Variants
Samples
Known GenesSPATS2L
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)nssv17209254
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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