A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266052



Internal ID22279461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:104680739..104716147hg38UCSC Ensembl
Outerchr1:105223361..105258769hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3835409
hg1935409
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196819
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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