A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584228



Internal ID16371637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:203317361..203326603hg38UCSC Ensembl
Innerchr2:204182084..204191326hg19UCSC Ensembl
Innerchr2:203890329..203899571hg18UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg389243
hg199243
hg189243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7261n54
Supporting Variantsnssv930572, nssv930573
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584228
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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