A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253516



Internal ID22185913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:5665294..5703618hg38UCSC Ensembl
Outerchr11:5686524..5724848hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3838325
hg1938325
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215236
Supporting Variants
SamplesHG00731
Known GenesTRIM22, TRIM5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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