A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221916



Internal ID21669425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202141872..202141872hg38UCSC Ensembl
chr2:203006595..203006595hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686387
Supporting Variants
Samples
Known GenesLOC100652824
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)nssv17221916
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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