A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226825



Internal ID22369502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70190261..70223110hg38UCSC Ensembl
Outerchr12:70584041..70616890hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3832850
hg1932850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1893n152
Supporting Variantsnssv14254650, nssv14254654, nssv14254651, nssv14254653, nssv14254652
SamplesHG00512, NA19238, NA19239, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226825
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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