A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678395



Internal ID21704716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60867935..60867935hg38UCSC Ensembl
chr2:61095070..61095070hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205557
Samples
Known GenesFLJ16341
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)nsv5678395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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