A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219959



Internal ID22364812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129087975..129089534hg38UCSC Ensembl
chr12:129572520..129574079hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2069n152
Supporting Variantsnssv14367552, nssv14367553, nssv14367554
SamplesHG00512, HG00732, HG00514
Known GenesTMEM132D
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219959
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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