A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218769



Internal ID21666278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54292672..54292672hg38UCSC Ensembl
chr4:55158839..55158839hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683184
Supporting Variants
Samples
Known GenesPDGFRA
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)nssv17218769
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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