A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254564



Internal ID22117300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128852803..128931696hg38UCSC Ensembl
Outerchr11:128722698..128801591hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248073
Supporting Variants
SamplesHG00512
Known GenesC11orf45, KCNJ1, KCNJ5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254564
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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