A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605688



Internal ID16046411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:538486..552367hg38UCSC Ensembl
Innerchr7:578123..592004hg19UCSC Ensembl
Innerchr7:544649..558530hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3813882
hg1913882
hg1813882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1077797
Samples
Known GenesPRKAR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605688
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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