A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712501



Internal ID21738822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54902808..54902808hg38UCSC Ensembl
chr17:52980169..52980169hg19UCSC Ensembl
Cytoband17q22
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 Variantsnssv17200659
Samples
Known GenesTOM1L1
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)nsv5712501
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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