A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565451



Internal ID22434170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:21693771..21693771hg38UCSC Ensembl
chr8:21551283..21551283hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14340334, nssv14340333
SamplesNA19239, HG00732
Known GenesGFRA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565451
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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