A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694269



Internal ID21720590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14687843..14687843hg38UCSC Ensembl
chr5:14687952..14687952hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17212045, nssv17175950
Samples
Known GenesFAM105B
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)nsv5694269
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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