A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529742



Internal ID22399133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106442672..106442774hg38UCSC Ensembl
chr12:106836450..106836552hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14365626, nssv14365628, nssv14365627
SamplesNA19238, NA19239, NA19240
Known GenesPOLR3B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529742
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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