A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14293659



Internal ID22186096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119525206..119525568hg38UCSC Ensembl
chr2:120282782..120283144hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526226
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14293659
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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