A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194142



Internal ID22344501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223885592..223888443hg38UCSC Ensembl
chr2:224750309..224753160hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382852
hg192852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297457, nssv14297460, nssv14297462, nssv14297461, nssv14297458, nssv14297463, nssv14297456, nssv14297464, nssv14297459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesWDFY1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194142
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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