A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226576



Internal ID22369329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:54444296..54487990hg38UCSC Ensembl
Outerchr14:54911014..54954708hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3843695
hg1943695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258903
SamplesHG00731
Known GenesGMFB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226576
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