A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590554



Internal ID16377963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:66500224..66501284hg38UCSC Ensembl
Innerchr3:66550648..66551708hg19UCSC Ensembl
Innerchr3:66633338..66634398hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381061
hg191061
hg181061
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8363n54
Supporting Variantsnssv964217, nssv964219, nssv964218
Samples
Known GenesLRIG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590554
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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