A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253261



Internal ID22219829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3226785..3305567hg38UCSC Ensembl
Outerchr11:3248015..3326797hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3878783
hg1978783
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225410
Supporting Variants
SamplesHG00733
Known GenesMRGPRE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253261
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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