A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702414



Internal ID21728735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92644795..92644795hg38UCSC Ensembl
chr9:95407077..95407077hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224821, nssv17187455
Samples
Known GenesIPPK
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)nsv5702414
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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