A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708611



Internal ID21734932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39638388..39638388hg38UCSC Ensembl
chr8:39495907..39495907hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184357, nssv17213359
Samples
Known GenesADAM18
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)nsv5708611
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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