A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229186



Internal ID22371112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112146425..112149953hg38UCSC Ensembl
chr12:112584229..112587757hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383529
hg193529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366390, nssv14366388, nssv14366394, nssv14366391, nssv14366395, nssv14366393, nssv14366387, nssv14366392, nssv14366389
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesTRAFD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229186
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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