A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697449



Internal ID21723770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5560702..5560702hg38UCSC Ensembl
chr9:5560702..5560702hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223807, nssv17186512
Samples
Known GenesPDCD1LG2
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)nsv5697449
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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