A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710574



Internal ID21736895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3599491..3599491hg38UCSC Ensembl
chr17:3502785..3502785hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198880, nssv17218160
Samples
Known GenesTRPV1
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)nsv5710574
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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