A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714155



Internal ID21740476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17186053..17186053hg38UCSC Ensembl
chr17:17089367..17089367hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200220
Samples
Known GenesMPRIP
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)nsv5714155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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