A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583690



Internal ID16371099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177773653..177847556hg38UCSC Ensembl
Innerchr2:178638381..178712283hg19UCSC Ensembl
Innerchr2:178346627..178420529hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3873904
hg1973903
hg1873903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv926996
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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