A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590223



Internal ID16030946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449455..47450477hg38UCSC Ensembl
Innerchr3:47490945..47491967hg19UCSC Ensembl
Innerchr3:47465949..47466971hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381023
hg191023
hg181023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8310n54
Supporting Variantsnssv962961
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590223
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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