A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277965



Internal ID22134307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:399282..452983hg38UCSC Ensembl
Outerchr10:445222..498923hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3853702
hg1953702
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218806
Supporting Variants
SamplesHG00513
Known GenesDIP2C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277965
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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