A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220604



Internal ID22365257
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276587, nssv14276586, nssv14276585, nssv14276584
SamplesHG00512, NA19238, NA19239, NA19240
Known GenesNRG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220604
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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