A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591400



Internal ID16378809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121351452..121620507hg38UCSC Ensembl
Innerchr3:121070299..121339354hg19UCSC Ensembl
Innerchr3:122552989..122822044hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38269056
hg19269056
hg18269056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971765
Samples
Known GenesARGFX, FBXO40, POLQ, STXBP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591400
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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