A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220312



Internal ID21667821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23203583..23203583hg38UCSC Ensembl
chr4:23205206..23205206hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690048
Supporting Variants
Samples
Known GenesMIR548AJ2
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)nssv17220312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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