A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5252n71



Internal ID6322872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128712378..128854285hg19UCSC Ensembl
chr3:130195068..130336975hg18UCSC 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 Variantsnsv877469, nsv877470
SamplesMS10311, MS17208
Known GenesCCDC48, GP9, ISY1, ISY1-RAB43, KIAA1257, RAB43
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv5252n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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