A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592852



Internal ID16380261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191355439..191375521hg38UCSC Ensembl
Innerchr3:191073228..191093310hg19UCSC Ensembl
Innerchr3:192555922..192576004hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3820083
hg1920083
hg1820083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8799n54
Supporting Variantsnssv984020, nssv984019
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592852
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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