A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197083



Internal ID22347005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11143910..11144146hg38UCSC Ensembl
chr5:11144022..11144258hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14320224, nssv14320225
SamplesNA19238, NA19240
Known GenesCTNND2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197083
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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