A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276587



Internal ID22308475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:82363690..82413811hg38UCSC Ensembl
Outerchr10:84123446..84173567hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3850122
hg1950122
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220604
Supporting Variants
SamplesNA19240
Known GenesNRG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276587
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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