A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253526



Internal ID22185948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:91568909..91639280hg38UCSC Ensembl
Outerchr11:91302075..91372446hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3870372
hg1970372
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210443
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253526
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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