A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212163



Internal ID21659672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60151808..60151808hg38UCSC Ensembl
chr5:59447635..59447635hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677423
Supporting Variants
Samples
Known GenesPDE4D
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)nssv17212163
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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