A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583699



Internal ID16371108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177974910..177978862hg38UCSC Ensembl
Innerchr2:178839637..178843589hg19UCSC Ensembl
Innerchr2:178547883..178551835hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383953
hg193953
hg183953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7177n54
Supporting Variantsnssv927007
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583699
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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