A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226183



Internal ID22369075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17298434..17302560hg38UCSC Ensembl
chr19:17409243..17413369hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384127
hg194127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286279, nssv14286275, nssv14286281, nssv14286276, nssv14286278, nssv14286277, nssv14286274, nssv14286280, nssv14286282
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesABHD8
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226183
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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