A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584110



Internal ID16371519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194497590..194597071hg38UCSC Ensembl
Innerchr2:195362314..195461795hg19UCSC Ensembl
Innerchr2:195070559..195170040hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3899482
hg1999482
hg1899482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930181
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584110
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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