A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3563119



Internal ID22431859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42743600..42743600hg38UCSC Ensembl
chr3:42785092..42785092hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14306131, nssv14306132
SamplesNA19239, NA19240
Known GenesCCDC13, CCDC13-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3563119
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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