A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253552



Internal ID22199503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108940385..108958699hg38UCSC Ensembl
Outerchr11:108811112..108829426hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3818315
hg1918315
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218243
Supporting Variants
SamplesHG00732
Known GenesDDX10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253552
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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