A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529182



Internal ID22398575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45038593..45038675hg38UCSC Ensembl
chr12:45432376..45432458hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363968, nssv14363967, nssv14363970, nssv14363969, nssv14363966, nssv14363971, nssv14363972
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesDBX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529182
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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