A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714136



Internal ID21740457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74301921..74301921hg38UCSC Ensembl
chr17:72298060..72298060hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200726
Samples
Known GenesDNAI2
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)nsv5714136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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