A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560962



Internal ID22429757
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 Variantsnssv14390548, nssv14379787
SamplesNA19239, NA19240
Known GenesTRPV1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3560962
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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