A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276341



Internal ID22135817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:714980..743318hg38UCSC Ensembl
Outerchr10:760920..789258hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3828339
hg1928339
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227800
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276341
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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