A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272645



Internal ID22267607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115402562..115466655hg38UCSC Ensembl
Outerchr5:114738259..114802352hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3864094
hg1964094
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206771
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272645
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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