A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590229



Internal ID16030952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449685..47451772hg38UCSC Ensembl
Innerchr3:47491175..47493262hg19UCSC Ensembl
Innerchr3:47466179..47468266hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382088
hg192088
hg182088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8312n54
Supporting Variantsnssv962985, nssv962984
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590229
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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