A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274907



Internal ID22230225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58376065..58393231hg38UCSC Ensembl
Outerchr5:57671892..57689058hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3817167
hg1917167
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194911
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274907
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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