A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591413



Internal ID16378822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448402..123449789hg38UCSC Ensembl
Innerchr3:123167249..123168636hg19UCSC Ensembl
Innerchr3:124649939..124651326hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381388
hg191388
hg181388
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8529n54
Supporting Variantsnssv971776
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591413
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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