A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228447



Internal ID22370625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49997282..49997395hg38UCSC Ensembl
chr18:47523652..47523765hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14284184, nssv14284185, nssv14284183
SamplesHG00512, HG00513, HG00514
Known GenesMYO5B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228447
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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