A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698749



Internal ID21725070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100019634..100019634hg38UCSC Ensembl
chr9:102781916..102781916hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187714, nssv17232837
Samples
Known GenesERP44
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)nsv5698749
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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