A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237002



Internal ID22373757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10192159..10199063hg38UCSC Ensembl
Outerchr12:10344758..10351662hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382383
hg192383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256112
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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