A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253348



Internal ID22116906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65872258..65882252hg38UCSC Ensembl
Outerchr11:65639729..65649723hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg389995
hg199995
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211383
Supporting Variants
SamplesHG00512
Known GenesCTSW, EFEMP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253348
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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