A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222012



Internal ID22366218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608882..107608974hg38UCSC Ensembl
chr12:108002659..108002751hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1983n152
Supporting Variantsnssv14366273, nssv14366272, nssv14366271
SamplesNA19238, HG00513, HG00514
Known GenesBTBD11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222012
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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