A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592819



Internal ID16380228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191341533..191352195hg38UCSC Ensembl
Innerchr3:191059322..191069984hg19UCSC Ensembl
Innerchr3:192542016..192552678hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3810663
hg1910663
hg1810663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8792n54
Supporting Variantsnssv1152284
SamplesHGDP01147
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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