A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245143



Internal ID22376068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12644069..12657641hg38UCSC Ensembl
Outerchr12:12797003..12810575hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384296
hg194296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255293, nssv14255292, nssv14255290, nssv14255295, nssv14255291, nssv14255289, nssv14255288, nssv14255294, nssv14255287
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCREBL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245143
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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