A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14340334



Internal ID22279977
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3565451
Supporting Variants
SamplesNA19239
Known GenesGFRA2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14340334
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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