A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546690



Internal ID15987413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84096582..84189555hg38UCSC Ensembl
Innerchr1:84562265..84655238hg19UCSC Ensembl
Innerchr1:84334853..84427826hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3892974
hg1992974
hg1892974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718380
Samples
Known GenesPRKACB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546690
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer