A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675781



Internal ID21702102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86620114..86620114hg38UCSC Ensembl
chr2:86847237..86847237hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206077
Samples
Known GenesRNF103, RNF103-CHMP3
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)nsv5675781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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