A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536245



Internal ID22405478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18442259..18442450hg38UCSC Ensembl
chr19:18553069..18553260hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286969, nssv14286971, nssv14287240, nssv14286967, nssv14286968, nssv14286970
SamplesHG00512, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3536245
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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