A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699256



Internal ID21725577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18165845..18165845hg38UCSC Ensembl
chr17:18069159..18069159hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226306, nssv17197341
Samples
Known GenesMYO15A
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)nsv5699256
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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