A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590222



Internal ID16030945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449396..47451772hg38UCSC Ensembl
Innerchr3:47490886..47493262hg19UCSC Ensembl
Innerchr3:47465890..47468266hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382377
hg192377
hg182377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8313n54
Supporting Variantsnssv962960
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590222
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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