A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280257



Internal ID22122853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:83745710..83780303hg38UCSC Ensembl
Outerchr10:85505466..85540059hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3834594
hg1934594
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217147
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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