A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591417



Internal ID16378826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123448504..123449522hg38UCSC Ensembl
Innerchr3:123167351..123168369hg19UCSC Ensembl
Innerchr3:124650041..124651059hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381019
hg191019
hg181019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8528n54
Supporting Variantsnssv971795
Samples
Known GenesADCY5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591417
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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