A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219200



Internal ID22364295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115491167..115537413hg38UCSC Ensembl
Outerchr12:115928972..115975218hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3846247
hg1946247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255591
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219200
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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