A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591409



Internal ID16378818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122950310..122970551hg38UCSC Ensembl
Innerchr3:122669157..122689398hg19UCSC Ensembl
Innerchr3:124151847..124172088hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3820242
hg1920242
hg1820242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152538
SamplesHGDP01079
Known GenesSEMA5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591409
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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