A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254244



Internal ID22276204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:166232950..166247160hg38UCSC Ensembl
Outerchr1:166202187..166216397hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3814211
hg1914211
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205298
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254244
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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