A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706419



Internal ID21732740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78911034..78911034hg38UCSC Ensembl
chr12:79304814..79304814hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219725, nssv17193173
Samples
Known GenesSYT1
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)nsv5706419
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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