A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704612



Internal ID21730933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13049913..13049913hg38UCSC Ensembl
chr18:13049912..13049912hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200508, nssv17213537
Samples
Known GenesCEP192
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)nsv5704612
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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