A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254477



Internal ID22131072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65361871..65377513hg38UCSC Ensembl
Outerchr11:65129342..65144984hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3815643
hg1915643
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226550
Supporting Variants
SamplesHG00513
Known GenesSLC25A45
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254477
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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