A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583691



Internal ID16371100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177973464..177978862hg38UCSC Ensembl
Innerchr2:178838191..178843589hg19UCSC Ensembl
Innerchr2:178546437..178551835hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385399
hg195399
hg185399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv926997, nssv926998
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583691
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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