A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592840



Internal ID16033563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191347727..191355917hg38UCSC Ensembl
Innerchr3:191065516..191073706hg19UCSC Ensembl
Innerchr3:192548210..192556400hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388191
hg198191
hg188191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8794n54
Supporting Variantsnssv983976
Samples
Known GenesCCDC50
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592840
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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