A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592853



Internal ID16380262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191355439..191377196hg38UCSC Ensembl
Innerchr3:191073228..191094985hg19UCSC Ensembl
Innerchr3:192555922..192577679hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3821758
hg1921758
hg1821758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8799n54
Supporting Variantsnssv984021
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592853
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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