A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244133



Internal ID22375777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40144059..40177641hg38UCSC Ensembl
Outerchr12:40537861..40571443hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382428
hg192428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256835, nssv14256832, nssv14256834, nssv14256828, nssv14256831, nssv14256833, nssv14256830, nssv14256829
SamplesHG00512, NA19239, 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)nsv3244133
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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