A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561170



Internal ID22429956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54236359..54236359hg38UCSC Ensembl
chr18:51762729..51762729hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284535, nssv14284534, nssv14284537, nssv14284538, nssv14284539, nssv14284536
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561170
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer