A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229794



Internal ID22371525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54934598..54936955hg38UCSC Ensembl
chr18:52601829..52604186hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382358
hg192358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284581, nssv14284580, nssv14284585, nssv14284578, nssv14284579, nssv14284582, nssv14284583, nssv14284577, nssv14284584
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCCDC68
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229794
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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