A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283673



Internal ID22220615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126757104..126762851hg38UCSC Ensembl
Outerchr9:129519383..129525130hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg385748
hg195748
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211128
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283673
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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