A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253510



Internal ID22185906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1425610..1438410hg38UCSC Ensembl
Outerchr11:1446840..1459640hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3812801
hg1912801
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226712
Supporting Variants
SamplesHG00731
Known GenesBRSK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253510
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