A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270207



Internal ID22265458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111475237..111535335hg38UCSC Ensembl
Outerchr3:111194084..111254182hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3860099
hg1960099
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201563
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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