A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223744



Internal ID22367426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58321651..58345601hg38UCSC Ensembl
Outerchr12:58715434..58739384hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3823951
hg1923951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254631, nssv14254630, nssv14254636, nssv14254629, nssv14254635, nssv14254633, nssv14254634, nssv14254632
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223744
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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