A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254688



Internal ID22131168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90081865..90098202hg38UCSC Ensembl
Outerchr12:90475642..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3816338
hg1916338
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218379
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254688
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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