A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590226



Internal ID16030949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47449628..47451303hg38UCSC Ensembl
Innerchr3:47491118..47492793hg19UCSC Ensembl
Innerchr3:47466122..47467797hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381676
hg191676
hg181676
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962968, nssv962972, nssv962969, nssv962967, nssv962966, nssv962971, nssv962973, nssv962970
Samples
Known GenesSCAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590226
Frequency
Sample Size17421
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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