A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210237



Internal ID22358190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:169232726..169273680hg38UCSC Ensembl
Outerchr2:170089236..170130190hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3840955
hg1940955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265255, nssv14265254
SamplesHG00731, HG00732
Known GenesLRP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210237
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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