A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583555



Internal ID16024278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164624512..164787137hg38UCSC Ensembl
Innerchr2:165481022..165643647hg19UCSC Ensembl
Innerchr2:165189268..165351893hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38162626
hg19162626
hg18162626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925142
Samples
Known GenesCOBLL1, SNORA70F
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583555
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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