A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592825



Internal ID16380234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191345954..191352195hg38UCSC Ensembl
Innerchr3:191063743..191069984hg19UCSC Ensembl
Innerchr3:192546437..192552678hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386242
hg196242
hg186242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8793n54
Supporting Variantsnssv983580, nssv983579, nssv983578
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592825
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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