A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271122



Internal ID22135331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70455174..70511615hg38UCSC Ensembl
Outerchr3:70504325..70560766hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3856442
hg1956442
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205854
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271122
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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