A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222333



Internal ID22366439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:41787577..41858580hg38UCSC Ensembl
Outerchr12:42181379..42252382hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3871004
hg1971004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255359, nssv14255358, nssv14255360
SamplesHG00512, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222333
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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