A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253523



Internal ID22188852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59980755..60054061hg38UCSC Ensembl
Outerchr11:59748228..59821534hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3873307
hg1973307
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225562
Supporting Variants
SamplesHG00731
Known GenesOOSP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253523
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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