A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212129



Internal ID21659638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32762472..32762472hg38UCSC Ensembl
chr5:32762578..32762578hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690379
Supporting Variants
Samples
Known GenesNPR3
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)nssv17212129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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