A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590730



Internal ID16031453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:77289437..77296067hg38UCSC Ensembl
Innerchr3:77338588..77345218hg19UCSC Ensembl
Innerchr3:77421278..77427908hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg386631
hg196631
hg186631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8392n54
Supporting Variantsnssv965823, nssv965822
Samples
Known GenesROBO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590730
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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