A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546689



Internal ID15987412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84065434..84205133hg38UCSC Ensembl
Innerchr1:84531117..84670816hg19UCSC Ensembl
Innerchr1:84303705..84443404hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38139700
hg19139700
hg18139700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718379
Samples
Known GenesPRKACB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546689
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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