A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227311



Internal ID22369845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43249903..43337751hg38UCSC Ensembl
Outerchr18:40829868..40917716hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3887849
hg1987849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261779
SamplesHG00732
Known GenesSYT4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227311
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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