A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583693



Internal ID16371102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177973794..177979223hg38UCSC Ensembl
Innerchr2:178838521..178843950hg19UCSC Ensembl
Innerchr2:178546767..178552196hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385430
hg195430
hg185430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7177n54
Supporting Variantsnssv927000
Samples
Known GenesPDE11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583693
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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