A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253539



Internal ID22202096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:32149587..32171541hg38UCSC Ensembl
Outerchr11:32171133..32193087hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3821955
hg1921955
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227111
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253539
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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