A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253597



Internal ID22272259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93413475..93435776hg38UCSC Ensembl
Outerchr11:93146641..93168942hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3822302
hg1922302
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223505
Supporting Variants
SamplesNA19239
Known GenesCCDC67
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253597
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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