A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590228



Internal ID16030951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449628..47451848hg38UCSC Ensembl
Innerchr3:47491118..47493338hg19UCSC Ensembl
Innerchr3:47466122..47468342hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382221
hg192221
hg182221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8311n54
Supporting Variantsnssv962976, nssv962982, nssv962975, nssv962977, nssv962979, nssv962980, nssv962981, nssv962983, nssv962978
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590228
Frequency
Sample Size17421
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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