A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5251n71



Internal ID6322871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128705567..128915591hg19UCSC Ensembl
chr3:130188257..130398281hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv877467, nsv877468
SamplesIS35484, MS13770
Known GenesCCDC48, CNBP, GP9, ISY1, ISY1-RAB43, KIAA1257, RAB43
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv5251n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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