A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225504



Internal ID22368611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117200410..117208237hg38UCSC Ensembl
Outerchr12:117638215..117646042hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg387828
hg197828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256358
SamplesHG00731
Known GenesNOS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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