A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211383



Internal ID22358957
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253350, nssv14253352, nssv14253351, nssv14253349, nssv14253348
SamplesHG00512, NA19238, HG00731, HG00732, HG00733
Known GenesCTSW, EFEMP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211383
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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