A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254857



Internal ID22287270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:199130033..199149652hg38UCSC Ensembl
Outerchr1:199099161..199118780hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819620
hg1919620
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206177
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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