A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269302



Internal ID22136084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41738368..41759409hg38UCSC Ensembl
Outerchr22:42134372..42155413hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3821042
hg1921042
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214716
Supporting Variants
SamplesHG00513
Known GenesMEI1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269302
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