A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230355



Internal ID22371907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18686475..18686527hg38UCSC Ensembl
chr12:18839409..18839461hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361092
SamplesNA19238
Known GenesPLCZ1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230355
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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