A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274350



Internal ID22263385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:20406772..20429322hg38UCSC Ensembl
Outerchr5:20406881..20429431hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3822551
hg1922551
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206617
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274350
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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