A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276096



Internal ID22230347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:26707846..26755510hg38UCSC Ensembl
Outerchr10:26996775..27044439hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3847665
hg1947665
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220598
Supporting Variants
SamplesHG00733
Known GenesABI1, PDSS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276096
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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