A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17177507



Internal ID21625016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140297617..140297617hg38UCSC Ensembl
chr5:139677202..139677202hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5685232
Supporting Variants
Samples
Known GenesPFDN1
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)nssv17177507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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