A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272323



Internal ID22253319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:18312796..18349008hg38UCSC Ensembl
Outerchr4:18314419..18350631hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3836213
hg1936213
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194113
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272323
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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