A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253520



Internal ID22185799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:41787494..41804637hg38UCSC Ensembl
Outerchr11:41809044..41826187hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg3817144
hg1917144
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219068
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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