A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212033



Internal ID22359403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120201498..120202133hg38UCSC Ensembl
chr12:120639301..120639936hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365215
SamplesNA19238
Known GenesPXN-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212033
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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