A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712882



Internal ID21739203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58771412..58771412hg38UCSC Ensembl
chr12:59165194..59165194hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192853, nssv17217004
Samples
Known Genes
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)nsv5712882
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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