A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272644



Internal ID22265624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:114959478..115013069hg38UCSC Ensembl
Outerchr5:114295175..114348766hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3853592
hg1953592
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204940
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272644
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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