A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590553



Internal ID16377962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:66500224..66501224hg38UCSC Ensembl
Innerchr3:66550648..66551648hg19UCSC Ensembl
Innerchr3:66633338..66634338hg18UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv964216, nssv964215, nssv964214
Samples
Known GenesLRIG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590553
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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