A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282776



Internal ID22124859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35371511..35392354hg38UCSC Ensembl
Outerchr9:35371508..35392351hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3820844
hg1920844
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212101
Supporting Variants
SamplesHG00512
Known GenesUNC13B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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