A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578662



Internal ID16019385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14090741..14093323hg38UCSC Ensembl
Innerchr19:14201553..14204135hg19UCSC Ensembl
Innerchr19:14062553..14065135hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382583
hg192583
hg182583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6279n54
Supporting Variantsnssv894841
Samples
Known GenesPRKACA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578662
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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