A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227809



Internal ID22370184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43571608..43618142hg38UCSC Ensembl
Outerchr12:43965411..44011945hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3846535
hg1946535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255585, nssv14254621, nssv14254622, nssv14255583, nssv14255584, nssv14254620, nssv14254623, nssv14254624
SamplesHG00512, NA19238, NA19239, 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)nsv3227809
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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