A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689850



Internal ID21716171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44375154..44375154hg38UCSC Ensembl
chr5:44375256..44375256hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176104
Samples
Known GenesFGF10
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)nsv5689850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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